Puddle sign
In gastroenterology, the puddle sign is a physical examination maneuver that can
be used to detect the presence of ascites.
It is useful for detecting small amounts of ascites -- as small as 120 mL; shifting
dullness and bulging flanks typically require 500 mL.
The steps are outlined as follows:
1.
Patient lies prone for 5 minutes
2.
Patient then rises onto elbows and knees
3.
Apply stethoscope diaphragm to most dependent abdomen
4.
Examiner repeatedly flicks near flank with finger. Continue to flick
at same spot on abdomen
5.
Move stethoscope across abdomen away from examiner
6.
Sound loudness increases at farther edge of puddle
7.
Sound transmission does not change when patient sits
In relation to auscultatory percussion, the puddle sign is more specific, but less
sensitive.
Rovsing's sign
Rovsing's sign, named after the Danish surgeon Niels Thorkild Rovsing, is a sign
of appendicitis. If palpation of the left lower quadrant of a person's abdomen results in
more pain in the right lower quadrant, the patient is said to have a positive Rovsing's sign
and may have appendicitis.
In acute appendicitis, palpation in the left iliac fossa may produce pain in the right
iliac fossa.
Most practitioners push on the left lower quadrant to see where the patient
complains of pain. If pain is felt in the right lower quadrant, then there may be an
inflamed organ or piece of tissue in the right lower quadrant. The appendix is generally
the prime suspect, although other pathology can also give a "positive" Rovsing's sign. If
left lower quadrant pressure by the examiner leads only to left-sided pain or pain on both
the left and right sides, then there may be some other pathologic etiology. This may
include causes relating to the bladder, uterus, ascending (right) colon, fallopian tubes,
ovaries, or other structures.
McBurney's sign
It is the name given to the tenderness over the point over the right side of the
abdomen that is one-third of the distance from the ASIS (anterior superior iliac spine) to
the umbilicus (the belly button). This point roughly corresponds to the most common
location of the base of the appendix where it is attached to the cecum. The anterior
cutaneous branch of iliohypogastric nerve is found near McBurney's point.
Cullen's sign
Cullen's sign is superficial edema and bruising in the subcutaneous fatty tissue
around the umbilicus.
This sign takes 24-48 hours to appear and can predict acute pancreatitis, with
mortality rising from 8-10% to 40%. It may be accompanied by Grey Turner's sign
(bruising of the flank), which may then be indicative of pancreatic necrosis with
retroperitoneal or intraabdominal bleeding.
Causes
Causes include:

acute pancreatitis, where methemalbumin formed from digested
blood tracks around the abdomen from the inflamed pancreas

bleeding from blunt abdominal trauma

bleeding from ruptured abdominal aortic aneurysm

bleeding from ruptured ectopic pregnancy
Importance of the sign is on a decline since better diagnostic modalities are now
availabl

Vomiting
Exams and Tests:
The polyps develop mainly in the small intestine, but also in the colon. A
colonoscopy will show colon polyps. The small intestine is evaluated with either a
barium x-ray (small bowel series) or a small camera that is swallowed and then take
multiple pictures as it travels through the small bowel (capsule endoscopy).
Additional exams may show:

Intussusception (part of the intestine folded in on itself)

Noncancerous tumors in the ear (exostoses)
Management:
Surgery may be needed to remove polyps that cause long-term problems. Iron
supplements help counteract blood loss.
Persons with this condition should be monitored by a health care provider and be
checked periodically for cancerous polyp changes.
Prognosis:
There may be a significant risk of these polyps becoming cancerous. Some studies
link PJS and cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.
Virchow's node
Malignancies of the internal organs can reach an advanced stage before giving
symptoms. Stomach cancer, for example, can remain symptomless while metastatizing.
One of the first visible spots where these tumors metastatise is the left supraclavicular
lymph node. The left supraclavicular node is the classical Virchow's node because it is on
the left side of the neck where the lymphatic drainage of most of the body (from the
thoracic duct) enters the venous circulation via the left subclavian vein.The metastasis
blocks the thoracic duct leading to regurgitation into the surrounding nodes ie. virchow's
node. Another concept is that one of the supraclavicular nodes corresponds to the end
node along the thoracic duct and hence the enlargement.
Differential diagnosis of an enlarged Virchow's node includes lymphoma, various
intra-abdominal malignancies, breast cancer, and infection (e.g. of the arm). Similarly, an
enlarged right supraclavicular lymph node tends to drain thoracic malignancies such as
lung and esophageal cancer, as well as Hodgkin's lymphoma.
Mallory–Weiss syndrome
Mallory–Weiss syndrome or gastro-esophageal laceration syndrome refers to
bleeding from tears (a Mallory-Weiss tear) in the mucosa at the junction of the stomach
and esophagus, usually caused by severe retching, coughing, or vomiting.
Causes:
It is often associated with alcoholism[1] and eating disorders and there is some
evidence that presence of a hiatal hernia is a predisposing condition.
Clinical Presentation:
Mallory–Weiss syndrome often presents as an episode of vomiting up blood
(hematemesis) after violent retching or vomiting, but may also be noticed as old blood in
the stool (melena), and a history of retching may be absent.
In most cases, the bleeding stops spontaneously after 24–48 hours, but endoscopic
or surgical treatment is sometimes required and rarely the condition is fatal.
Diagnosis:
Definitive diagnosis is by endoscopy.
General Management:
The blood transfusions and intravenous fluids will help restore the fluid and
electrolyte balance. Most of the time, esophageal bleeding stops spontaneously.
Treatment is usually supportive as persistent bleeding is uncommon. However
cauterization or injection of epinephrine[2] to stop the bleeding may be undertaken
during the index endoscopy procedure.
Very rarely embolization of the arteries supplying the region may be required to
stop the bleeding. If all other methods fail, high gastrostomy can be used to ligate the
bleeding vessel.
Mallory-Weiss syndrome can be treated. The doctor will stabilize the patient with
blood transfusions and intravenous fluids. If bleeding does not stop, patients are treated
with an injection of epinephrine (adrenaline) and/or the bleeding artery is cauterized with
heat. In some cases, surgery is performed to stop the bleeding.
Plummer-Vinson syndrome
Plummer-Vinson syndrome (PVS), also called Paterson-Brown-Kelly syndrome
or sideropenic dysphagia presents as a triad of dysphagia (due to esophageal webs),
glossitis, and iron deficiency anemia.[1] It most usually occurs in postmenopausal women.
Clinical Presentation:
PVS sufferers often complain of a burning sensation with the tongue and oral
mucosa, and atrophy of lingual papillae produces a smooth, shiny red tongue dorsum.
Symptoms include:
Dysphagia (difficulty in swallowing)
Pain
Weakness
Odynophagia (Painful swallowing)
Atrophic glossitis
Angular stomatitis
Increased risk of carcinoma
Serial contrasted gastrointestinal radiography or upper gastrointestinal endoscopy
may reveal the web in the esophagus. Blood tests show a hypochromic microcytic anemia
that is consistent with an iron-deficiency anemia. Biopsy of involved mucosa typically
reveals epithelial atrophy (shrinking) and varying amounts of submucosal chronic
inflammation. Epithelial atypia or dysplasia may be present.
Causes and associated conditions:
The cause of PVS is unknown; however, genetic factors and nutritional
deficiencies may play a role. Male to female ratio is 3:1, particularly in middle age. Peak
age over 50 years. In these patients, esophageal squamous cell carcinoma risk is
increased;[1] therefore, it is considered a premalignant process.
The condition is associated with koilonychia, glossitis, cheilitis, and
splenomegaly
Management:
Treatment is primarily aimed at correcting the iron-deficiency anemia. Patients
with PVS should receive iron supplementation in their diet. This may improve dysphagia
and pain. If not, the web can be dilated during upper endoscopy to allow normal
swallowing and passage of food.
Prognosis:
Patients generally respond well to treatment. Iron supplementation usually
resolves the anemia, and corrects the glossodynia (tongue pain).
Complications:
There is risk of perforation of the esophagus with the use of dilators for treatment.
Furthermore it is one of the risk factors for developing squamous cell carcinoma of the
oral cavity, esophagus and hypopharynx.
Prevention:
Good nutrition with adequate intake of iron may prevent this disorder
Asperger's Syndrome
Asperger's syndrome is a developmental disorder. It is classified as an autism
spectrum disorder, one of a distinct group of neurological conditions characterized by a
greater or lesser degree of impairment in language and communication skills, as well as
repetitive or restrictive patterns of thought and behavior.
Unlike children with autism, children with Asperger's syndrome retain their early
language skills. Asperger's syndrome affects far more boys than girls.
Symptoms of Asperger's Syndrome:
The most common symptom of Asperger's syndrome is a child’s obsessive
interest in a single object or topic to the exclusion of any other. Children with Asperger's
syndrome want to know everything about their topic of interest and their conversations
with others will be about little else. Their expertise, high level of vocabulary, and formal
speech patterns make them seem like little professors.
Other symptoms of of Asperger's syndrome include:
repetitive routines or rituals
peculiarities in speech and language
socially and emotionally inappropriate behavior and the inability to interact
successfully with peers
problems with non-verbal communication
clumsy and uncoordinated motor movements
Children with Asperger's syndrome are often are isolated because of their poor
social skills and narrow interests. Children with Asperger's syndrome usually have a
history of developmental delays in motor skills such as pedaling a bike, catching a ball,
or climbing outdoor play equipment. They are often awkward and poorly coordinated
with a walk that can appear either stilted or bouncy.
Causes:
The exact cause of Asperger's syndrome is unknown.
Management:
Treatments address the three core symptoms of Asperger's syndrome: poor
communication skills, obsessive or repetitive routines, and physical clumsiness.
Foot Syndrome
Burning foot syndrome is a common complaint among many groups of people,
most commonly in the older group over 50 years of age.
Symptoms of Burning Foot Syndrome
The most common symptom of burning foot syndrome are burning, stinging,
redness and swelling. Most times, the only symptoms present are burning and stinging
feet.
Causes of Burning Foot Syndrome
Some common causes of burning foot syndrome are:
Ingestion of alcohol over a long period of time
Irritating fabrics
Fungal infections
Poorly fitted shoes
Blood disorders
Nerve damage
Kidney failure
Liver damage
Thyroid dysfunction
Gastric restriction in morbid obesity
DiGeorge Syndrome
DiGeorge syndrome is a rare congenital disease characterized a history of
recurrent infection, heart defects and unique facial features.
DiGeorge syndrome is caused by a large deletion from chromosome 22. The
deletion is a result of an an error in recombination at meiosis. Several genes from
chromosome 22 are not present in DiGeorge syndrome patients.
Symptoms of DiGeorge Syndrome:
The symptoms of DiGeorge syndrome vary greatly between individuals.
Researches believe that the variation in the symptoms is related to the amount of genetic
material lost in the chromosomal deletion. The more genetic material is lost, the greater
the amount of symptoms.
Some common symptoms of DiGeorge syndrome are:
Speech impairments.
Immune deficiency
Learning disabilities
Hypocalcemia
Recurrent infections
Underdeveloped thymus gland
Hypoparathyroidism
Lack of T-cells
Congenital heart disease
Heart murmur
Heart failure
Underdeveloped parathyroid glands
Underdeveloped chin
Downward slanting eyes
Convulsions
Treatment Options for DiGeorge Syndrome:
The damaged chromosome cannot be repaired. Treatments are aimed to reduce
symptoms and complications. Some common treatments are surgery for heart problems,
and thymus cell transplants to restore the immune system
Fragile X Syndrome
Fragile X syndrome is a genetic condition involving changes in the long arm of
the X chromosome. Fragile X syndrome is characterized by mental retardation.
Fragile X syndrome is the most common form of inherited mental retardation in
males and a significant cause in females. Boys are affected more severely than girls
because boys only have one X chromosome and girls have two X chromosomes.
Fragile X syndrome is also called Fragile X. It appears in families of every ethnic
group and income level.
A person inherits Fragile X syndrome from their parents.
Symptoms of Fragile X Syndrome:
The most common symptoms of Fragile X syndrome are:
Mental retardation
Large testicles
Family history of fragile X syndrome
Tendency to avoid eye contact
Hyperactive behavior
Large forehead and/or ears with a prominent jaw
Fragile X syndrome is also associated with problems with sensation, emotion, and
behavior.
Management:
Unfortunately, there is no specific treatment for Fragile X syndrome. However,
with training and education, children with Fragile X syndrome can function at as high a
level as is possible.
Complications of Fragile X Syndrome
Complications vary depending on the type and severity of symptoms.
Prevention:
Genetic counseling may help prospective parents with a family history of Fragile
X syndrome can help determine the level of risk of having a child with Fragile X
syndrome.
Guillain-Barré Syndrome
Guillain-Barré (Ghee-yan Bah-ray) syndrome is an inflammatory disorder of the
peripheral nerves. Peripheral nerves are nerves outside the brain and spinal cord. In this
disorder, the body's immune system attacks part of the nervous system.
Clinical Features:
Guillain-Barré syndrome is characterized by the rapid onset of weakness and
often, paralysis of the legs, arms, breathing muscles and face. Guillain-Barré Syndrome
can develop over the course of hours or days, or it may take up to 3 to 4 weeks. Most
people reach the stage of greatest weakness within the first 2 weeks after symptoms
appear. Abnormal sensations also occur.
Guillain-Barré syndrome, is also called Acute Inflammatory Demyelinating
Polyneuropathy and Landry's Ascending Paralysis.
There are many symptoms of Guillain-Barré syndrome.
Varying degrees of weakness or tingling sensations in the legs is usually the first
symptom. In most instances the weakness and abnormal sensations spread to the arms
and upper body. These symptoms can increase in intensity until the muscles cannot be
used at all, and the patient is almost totally paralyzed.
Cause:
The exact cause of Guillain-Barré syndrome is not known. About 50% of cases
occur shortly after a viral or bacterial infection such as a sore throat or diarrhea. A lot of
cases developed in people who received the 1976 swine flu vaccine.
Management:
Currently, there is no cure for Guillain-Barré syndrome. However, some of the
symptoms can be treated. There are therapies available that can lessen the severity of the
symptoms and accelerate the recovery in most patients.
Guillain-Barre syndrome is a very serious disease that requires immediate
hospitalization. It requires immediate hospitalization because it can worsen rapidly. Most
newly diagnosed patients are hospitalized and usually placed in an intensive care unit to
monitor breathing and other body functions.
Gilbert's Syndrome
Gilbert's syndrome is a disorder that affects the way the liver processes bilirubin.
Bilirubin results from the normal breakdown of red blood cells.
Gilbert's syndrome is a common cause of elevated blood levels of bilirubin in
people with no other signs or symptoms of liver disease. In some cases, Gilbert's
syndrome may cause jaundice.
Clinical Features:
Usually there are no symptoms for Gilbert's syndrome. When symptoms do occur,
the most common symptoms of are:
Jaundice
Abdominal pain
Loss of appetite
Fatigue
Weakness after suffering an infection
Causes:
The exact cause of Gilbert's syndrome is unknown. However, researchers believe
that Gilbert's syndrome may be caused by reduced activity of a particular enzyme. The
reduced activity of the enzyme makes the liver less capable of processing bilirubin.
Researchers do not know what causes the enzyme to function poorly.
Gilbert's syndrome is caused by a 70%-80% reduction in the glucuronidation
activity of the enzyme Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UDPglucuronosyltransferase 1A1).
The enzyme is produced from a gene named UGT1A1, located on human
chromosome 2. A normal UGT1A1 gene has a promoter region TATA box containing the
genetic subsequence A(TA6)TAA. The allele polymorphism is referred to as
UGT1A1*28.
Gilbert's syndrome is most commonly associated with homozygous A(TA7)TAA
alleles. In 94% of GS cases, mutations in two of the other glucoronyltransferase
variations UGT1A6 (rendered 50% inactive) and UGT1A7 (rendered 83% ineffective)
are also present. Because of its effects on drug and bilirubin breakdown and because of
its genetic inheritance, Gilbert's syndrome can be classed as a minor inborn error of
metabolism.
Diagnosis:
Examination of the blood sample for an increase in unconjugated bilirubin.
People with GS show predominantly elevated unconjugated bilirubin, while
conjugated is usually within normal ranges and form less than 20% of the total. Levels of
bilirubin in GS patients is reported to be from 20 μM to 90 μM (1.2 to 5.3 mg/dL)
compared to the normal amount of < 20 μM. GS patients will have a ratio of
unconjugated/conjugated (indirect/direct) bilirubin that is commensurately higher than
those without GS.
The level of total bilirubin is often increased if the blood sample is taken after
fasting for two days, and a fast can therefore be useful diagnostically. If the total bilirubin
does in fact increase while fasting, the patient can then be given low doses of
phenobarbital when fasting has ended, and following samples should show a decrease in
total bilirubin toward normal levels.
Also a mutation detection DNS test of UGT1A1 with Polymerase chain reaction
and DNS fragment sequencing.
Management:
Gilbert's syndrome usually isn't serious and needs no treatment.
Goodpasture's Syndrome
Goodpasture's syndrome is a rare disease, autoimmune disease that can affect the
lungs and kidneys. An autoimmune disease is a condition in which the body's own
defense system reacts against some part of the body itself. When the immune system is
working normally, it creates antibodies to fight off germs. In Goodpasture's syndrome,
the immune system makes antibodies that attack the lungs and kidneys. Why this happens
is uncertain. A combination of factors has been implicated, among them the presence of
an inherited component and exposure to certain chemicals.
Symptoms of Goodpasture's Syndrome
The most common symptoms of Goodpasture's syndrome are:
Fatigue
Nausea
Difficulty breathing
Extreme or unnatural paleness
Blood in the urine
Protein in the urine
Goodpasture's syndrome can also cause people to cough up blood or feel a
burning sensation when urinating.
Diagnosis:
A blood test and/or a kidney biopsy diagnose Goodpasture's syndrome.
Management:
Goodpasture's syndrome is treated with oral immunosuppressive drugs to keep the
immune system from making antibodies. Corticosteroid drugs may be given
intravenously to control bleeding in the lungs. A process called plasmapheresis may be
helpful and necessary to remove the harmful antibodies from the blood; this is usually
done in combination with the immunosuppressive drug treatment.
Mirizzi's Syndrome
Mirizzi's syndrome is a condition characterized by stricture of the common
hepatic duct. The common hepatic duct is the duct formed by the junction of the right
hepatic duct (which drains bile from the right half of the liver) and the left hepatic duct
(which drains bile from the left half of the liver).
Mirizzi's syndrome may be mistaken for pancreatic cancer or
cholangiocarcinoma.
Causes:
Mirizzi's syndrome is caused by chronic cholecystitis and large gallstones
resulting in constriction of the common bile duct. cholecystitis is an inflammation of the
gallbladder that causes severe abdominal pain.
In some cases, the gallstone erodes into the common hepatic duct and produces a
cholecystocholedochal fistula.
Symptoms of Mirizzi's syndrome:
The most common symptoms of Mirizzi's syndrome are:
Jaundice
Fever
Recurrent cholangitis
Right upper quadrant pain
Elevated bilirubin
Pancreatitis
Cholecystitis
Diagnosis:
Doctors usually diagnose Mirizzi's syndrome via CT scan or ultrasonography.
Management:
Mirizzi's syndrome can be treated. Common treatments include surgical removal
of the gallbladder and reconstruction of the common bile duct and the hepatic duct
Sjögren's syndrome
Sjögren's syndrome, also known as "Mikulicz disease" and "Sicca syndrome", is a
systemic autoimmune disease in which immune cells attack and destroy the exocrine
glands that produce tears and saliva.
Nine out of ten Sjögren's patients are women and the average age of onset is late
40s, although Sjögren's occurs in all age groups in both women and men.
Causes:
Sjögren's syndrome can exist as a disorder in its own right (Primary Sjögren's
syndrome) or it may develop years after the onset of an associated rheumatic disorder
such as rheumatoid arthritis, systemic lupus erythematosus, scleroderma, primary biliary
cirrhosis etc. (Secondary Sjögren's syndrome). An autoantigen is alpha-Fodrin.
Diagnosis:
Blood tests can be done to determine if a patient has high levels of antibodies that
are indicative of the condition, such as anti-nuclear antibody (ANA) and rheumatoid
factor (because SS frequently occurs secondary to rheumatoid arthritis), which are
associated with autoimmune diseases. Typical Sjögren's syndrome ANA patterns are
SSA/Ro and SSB/La, of which SSB/La is far more specific; SSA/Ro is associated with
numerous other autoimmune conditions but are often present in Sjögren's.
The Schirmer test measures the production of tears: a strip of filter paper is held
inside the lower eyelid for five minutes, and its wetness is then measured with a ruler.
Producing less than five millimeters of liquid is usually indicative of Sjögren's syndrome.
However, lacrimal function declines with age or may be impaired from other medical
conditions. An alternative test is nonstimulated whole saliva flow collection, in which the
patient spits into a test tube every minute for 15 minutes. A resultant collection of less
than 1.5 mL is considered a positive result. It takes longer time to perform than a
Schirmer test, but does not require specific equipment.
A slit-lamp examination is done to look for dryness on the surface of the eye.
Salivary gland function can be tested by collecting saliva and determining the amount
produced in a five minute period. A lip biopsy can reveal lymphocytes clustered around
salivary glands, and damage to these glands due to inflammation.
Peutz-Jeghers syndrome
Peutz-Jeghers syndrome (PJS) is a disorder often passed down through families
(inherited) in which the person develops intestinal polyps and is at a significantly higher
risk for developing certain cancers.
Causes:
It is unknown how many people are affected by PJS. However, the National
Institutes of Health estimates that it affects about 1 in 25,000 to 300,000 births.
There are two types of PJS:
Familial PJS is due to a mutation in a gene called STK11. The genetic defect is
passed down (inherited) through families as an autosomal dominant trait. That means if
one of your parents has this type of PJS, you have a 50:50 chance of inheriting the bad
gene and having the disease.
Sporadic PJS is not passed down through families and appears unrelated to the
STK11 gene mutation.
Symptoms:
Brownish or bluish-gray pigmented spots on the lips, gums, inner lining of the
mouth, and skin
Clubbed fingers or toes
Cramping pain in the belly area
Dark freckles on and around the lips of a newborn
Blood in the stool that can be seen with the naked eye (occasionally)
Nephrotic syndrome
Nephrotic syndrome is a nonspecific disorder in which the kidneys are damaged,
causing them to leak large amounts of protein (proteinuria at least 3.5 grams per day per
1.73m2 body surface area) from the blood into the urine.
Kidneys affected by nephrotic syndrome have small pores in the podocytes, large
enough to permit proteinuria (and subsequently hypoalbuminemia, because some of the
protein albumin has gone from the blood to the urine) but not large enough to allow cells
through (hence no hematuria). By contrast, in nephritic syndrome, RBCs pass through the
pores, causing hematuria
Causes:
Nephrotic syndrome has many causes and may either be the result of a disease
limited to the kidney, called primary nephrotic syndrome, or a condition that affects the
kidney and other parts of the body, called secondary nephrotic syndrome.
Primary
Primary causes of nephrotic syndrome are usually described by the histology, i.e.
minimal change disease (MCD) like minimal change nephropathy which is the most
common cause of nephrotic syndrome in children, focal segmental glomerulosclerosis
(FSGS) and membranous nephropathy (MN) like membranous glomerulonephritis which
is the main cause of nephrotic syndrome in adult.
They are considered to be "diagnoses of exclusion", i.e. they are diagnosed only
after secondary causes have been excluded.
Secondary
Secondary causes of nephrotic syndrome have the same histologic patterns as the
primary causes, though may exhibit some differences suggesting a secondary cause, such
as inclusion bodies.
They are usually described by the underlying cause.
Secondary causes by histologic pattern:
Hepatitis B & Hepatitis C
Sjögren's syndrome
Systemic lupus erythematosus(SLE)
Diabetes mellitus
Sarcoidosis
Amyloidosis
Drugs (such as corticosteroids, gold, intravenous heroin)
Malignancy (cancer)
Bacterial infections, e.g. leprosy & syphilis
Protozoal infections, e.g. malaria
Focal segmental glomerulosclerosis (FSGS)
Hypertensive nephrosclerosis
Human immunodeficiency virus (HIV)
Obesity
Kidney loss
Minimal change disease (MCD)
Drugs, especially NSAIDs in the elderly
Malignancy, especially Hodgkin's lymphoma
Leukemia
Allergy
Bee sting
Diagnosis
The gold standard in diagnosis of nephrotic syndrome is 24 hour urine protein
measurement. Aiding in diagnosis are blood tests and sometimes imaging of the kidneys
(for structure and presence of two kidneys), and/or a biopsy of the kidneys.
The following are baseline, essential investigations:
24 hour bedside urinary total protein estimation.
Urine sample shows proteinuria (>3.5 g per 1.73 m2 per 24 hours). It is also
examined for urinary casts, which are more a feature of active nephritis.
Comprehensive metabolic panel (CMP) shows hypoalbuminemia: albumin level
≤2.5 g/dL (normal=3.5-5 g/dL).
Lipid profile.
High levels of cholesterol (hypercholesterolemia), specifically elevated LDL,
usually with concomitantly elevated VLDL is typical.
Electrolytes, urea and creatinine (EUCs): to evaluate renal function.
Further investigations are indicated if the cause is not clear:
Biopsy of kidney (in case of adult patients only).
Auto-immune markers (ANA, ASOT, C3, cryoglobulins, serum electrophoresis).
Ultrasound of the whole abdomen.
Treatment
Treatment includes: Supportive
Monitoring and maintaining euvolemia (the correct amount of fluid in the
body):
Monitoring urine output, BP regularly.
Fluid restrict to 1 L.
Diuretics (IV furosemide).
Monitoring kidney function:
do EUCs daily and calculating GFR.
Treat hyperlipidemia to prevent further atherosclerosis.
Prevent and treat any complications [see below]
Albumin infusions are generally not used because their effect lasts only
transiently.
Prophylactic anticoagulation may be appropriate in some circumstances.[5]
Specific
Immunosuppression for the glomerulonephritides (corticosteroids[6],
ciclosporin).
Standard ISKDC regime for first episode: prednisolone -60 mg/m2/day in
3 divided doses for 4 weeks followed by 40 mg/m2/day in a single dose on every
alternate day for 4 weeks.
Relapses by prednisolone 2 mg/kg/day till urine becomes negative for
protein. Then, 1.5 mg/kg/day for 4 weeks.
Frequent relapses treated by: cyclophosphamide or nitrogen mustard or
ciclosporin or levamisole.
Achieving better blood glucose level control if the patient is diabetic.
Blood pressure control. ACE inhibitors are the drug of choice.
Independent of their blood pressure lowering effect, they have been shown to decrease
protein loss.
Diet
Reduce sodium intake to 1000–2000 mg daily. Foods high in sodium include salt
used in cooking and at the table, seasoning blends (garlic salt, Adobo, season salt, etc.)
canned soups, canned vegetables containing salt, luncheon meats including turkey, ham,
bologna, and salami, prepared foods, fast foods, soy sauce, ketchup, and salad dressings.
On food labels, compare milligrams of sodium to calories per serving. Sodium should be
less than or equal to calories per serving.
Eat a moderate amount of high protein animal food: 3-5 oz per meal (preferably
lean cuts of meat, fish, and poultry)
Avoid saturated fats such as butter, cheese, fried foods, fatty cuts of red meat, egg
yolks, and poultry skin. Increase unsaturated fat intake, including olive oil, canola oil,
peanut butter, avocadoes, fish and nuts. Eat low-fat desserts.
Increase intake of fruits and vegetables. No potassium or phosphorus restriction
necessary.
Monitor fluid intake, which includes all fluids and foods that are liquid at room
temperature. Fluid management in nephrotic syndrome is tenuous, especially during an
acute flare.
Dubin–Johnson syndrome
Dubin–Johnson syndrome is an autosomal recessive disorder that causes an
increase of conjugated bilirubin in the serum without elevation of liver enzymes (ALT,
AST). This condition is associated with a defect in the ability of hepatocytes to secrete
conjugated bilirubin into the bile. It is usually asymptomatic but may be diagnosed in
early infancy based on laboratory tests.
Symptoms of Dubin-Johnson Syndrome:
The list of signs and symptoms mentioned in various sources for Dubin-Johnson
Syndrome includes the 8 symptoms listed below:
Intermittent jaundice
Pain in right hypochondrium
Liver enlargement
This beneficial effect is supposedly due to bilirubin IXα's being recognised as a
potent antioxidant.
A study by Lin et al. associated moderately elevated levels of bilirubin in people
with GS and the (TA)7/(TA)7 genotype with 1/3 the risk for both coronary heart disease
and cardiovascular disease as compared to those with the (TA)6/(TA)6 genotype (i.e. a
normal, non-mutated gene locus).
A paper by Schwertner and Vitek summarizes many of the pre-2008 findings
between cardiovascular disease and elevated serum bilirubin concentrations. The authors
go on to discuss intentional, artificial rising of bilirubin levels as a means of prevention of
cardiovascular disease and other oxidative and inflammatory diseases.
Pathophysiology:
The conjugated hyperbilirubinemia is a result of defective endogenous and
exogenous transfer of anionic conjugates from hepatocytes into the bile.[1] Pigment
deposition in lysosomes causes the liver to turn black.
Differential diagnosis:
While this syndrome is considered harmless, it is clinically important because it
may be confused with much more dang
Liver tenderness
Black liver
Dark pigment deposits in parenchymal cells
Presence of bilirubin in urine
Increased blood levels of conjugated bilirubin
Dubin-Johnson syndrome has an autosomal recessive pattern of inheritance.
DJS is due to a defect in the multispecific anion transporter (cMOAT) gene (ABC
transporter superfamily). It is an autosomal recessive disease and is likely due to a loss of
function mutation, since the mutation affects the cytoplasmic / binding domain.
Prognosis:
Prognosis is good, and treatment of this syndrome is usually unnecessary. Most
patients are asymptomatic and have normal life spans. Some neonates will present with
cholestasis. Hormonal contraceptives and pregnancy may lead to overt jaundice and
icterus (yellowing of the eyes and skin).
Zollinger–Ellison syndrome
Zollinger–Ellison syndrome is a triad of gastric acid hypersecretion, severe
peptic ulceration, and non-beta cell islet tumor of pancreas (gastrinoma). In this
syndrome increased levels of the hormone gastrin are produced, causing the stomach to
produce excess hydrochloric acid. Often the cause is a tumor (gastrinoma) of the
duodenum or pancreas producing the hormone gastrin. Gastrin then causes an excessive
production of acid which can lead to peptic ulcers in almost 95% of patients.
Pathophysiology:
Gastrin works on stomach parietal cells causing them to secrete more hydrogen
ions into the stomach lumen. In addition, gastrin acts as a trophic factor for parietal cells,
causing parietal cell hyperplasia. Thus there is an increase in the number of acid-secreting
cells, and each of these cells produces acid at a higher rate. The increase in acidity
contributes to the development of multiple peptic ulcers in the stomach and duodenum
(small bowel).
Patients with Zollinger–Ellison syndrome may experience abdominal pain and
diarrhea. The diagnosis is also suspected in patients without symptoms who have severe
ulceration of the stomach and small bowel, especially if they fail to respond to treatment.
Gastrinomas may occur as single tumors or as multiple, small tumors. About onehalf to two-thirds of single gastrinomas are malignant tumors that most commonly spread
to the liver and lymph nodes near the pancreas and small bowel. Nearly 25 percent of
patients with gastrinomas have multiple tumors as part of a condition called multiple
endocrine neoplasia type I (MEN I). MEN I patients have tumors in their pituitary gland
and parathyroid glands in addition to tumors of the pancreas.
Symptoms:
Epigastric pain (stomach ache)
Diarrhoea
Melena
Vomiting
Weight loss
Diagnosis
Clinical suspicion of Zollinger–Ellison syndrome may be aroused when the above
symptoms prove resistant to treatment, when the symptoms are especially suggestive of
the syndrome, or endoscopy is suggestive. The diagnosis of Zollinger–Ellison syndrome
is made by several laboratory tests and imaging studies. Secretin stimulation test, which
measures evoked gastrin levels
Blind loop syndrome
Physiology:
The obstruction of a section of intestine causes ineffective bile salt mediated
digestion of fats, causing fatty stools and poor absorption of fat and fat-soluble vitamins.
Vitamin B12 deficiency may occur because the increased bacterial population can
consume the vitamin.
Causes:
Blind loop syndrome is a complication of surgical operations of the abdomen, as
well as inflammatory bowel disease or scrleroderma. Another cause is jejunoileal
diverticula.
Symptoms:

Loss of appetite

Nausea

Diarrhea

Fullness after a meal

Fatty stools

Unintentional weight loss
Signs and tests:
A physical examination may reveal a mass or distention of the abdomen.
Tests which may be useful for diagnosis include:

Abdominal x-ray

Abdominal CT scan
Short bowel syndrome
Signs and symptoms:
The symptoms of short bowel syndrome can include:

Abdominal pain

Diarrhea and steatorrhea (oily or sticky stool, which can be
malodorous)

Fluid retention

Weight loss and malnutrition

Fatigue
Patients with short bowel syndrome may have complications caused by
malabsorption of vitamins and minerals, such as deficiencies in vitamins A, D, E, K, and
B12, calcium, magnesium, iron, folic acid, and zinc. These may appear as anermia,
hyperkeratosis (scaling of the skin), easy bruising, muscle spasms, poor blood clotting,
and bone pain.
Causes:
Short bowel syndrome in adults is usually caused by surgery for:

Crohn's disease, an inflammatory disorder of the digestive tract

Volvulus, a spontaneous twisting of the small intestine that cuts off
the blood supply and leads to tissue death

Tumrors of the small intestine

Injury or trauma to the small intestine

Necrotizing enterocolitis (premature newborn)

Bypass surgery to treat obesity, a now commonly performed
surgical procedure

intestine
Surgery to remove diseases or damaged portion of the small
Pathophysiology:
In healthy adults, the small intestine has an average length of approximately 6
meters (19.7 feet). Short bowel syndrome usually develops when there is less than 2
meters (6.6 feet) of the small intestine left to absorb sufficient nutrients.
Short bowel syndrome caused by the surgical removal of a portion of the bowel
may be a temporary condition, due to the adaptive property of the small intestine.
In a process called intestinal adaptation, physiological changes to the remaining
portion of the small intestine occur to increase its absorptive capacity. These changes
include:

Enlargement and lengthening of the villi found in the lining

Increase in the diameter of the small intestine

Slow down in peristalsis or movement of food through the small
intestine
Management:
Symptoms of short bowel syndrome are usually addressed by prescription
medicine. These include:

Anti-diarrheal medicine (e.g. loperamide, codeine)

Vitamin, mineral supplements and L-Glutamine powder mixed
with water

H2 blocker and proton purmp inhibitors to reduce stomach acid

Lactase supplement (to improve the bloating and diarrhoea
associated with lactose intolerance)

Surgery, including intestinal lengthening, tapering, and small
bowel transplant.

Parenteral nutrition (PN or TPN for total parenteral nutrition -
nutrition administered via intravenous line).

Nutrition administered via gastrostomy tube
Juvenile polyposis syndrome
Solitary juvenile polyps most commonly occur in the rectum and present with
rectal bleeding. The World Health Organization criteria for diagnosis of juvenile
polyposis syndrome are one of either:
1.
More than five juvenile polyps in the colon or rectum; or
2.
Juvenile polyps throughout the gastrointestinal tract; or
3.
Any number of juvenile polyps in a person with a family history of
juvenile polyposis.
Clinical Presentation:
Age of onset is variable. The term 'Juvenile' in the title of Juvenile Polyposis
Syndrome refers to the histological type of the polyps rather than age of onset.
Affected individuals may present with rectal bleeding, abdominal pain, diarrhea
or anemia. On colonoscopy or sigmoidoscopy polyps that vary in shape or size are
present. The polyps can be sessile or pedunculated hamartomatous polyps[3].
Most juvenile polyps are benign, however, malignancy can occur. Lifetime risk of
developing cancers of the gastro-intestinal tract range from 9% to 50%.[4]
Genetics:
Juvenile Polyposis Syndrome can occur sporadically in families or be inherited in
an autosomal dominant manner.
Two genes associated with Juvenile Polyposis Syndrome are BMPR1A and
SMAD4 [5] Gene testing may be useful when trying to ascertain which non-symptomatic
family members may be at risk of developing polyps, however having a known familial
mutation would be unlikely to change the course of treatment. A known mutation may
also be of use for affected individuals when they decide to start a family as it allows them
reproductive choices.
While mutations in the gene PTEN were also thought to have caused Juvenile
Polyposis Syndrome, it is now thought that mutations in this gene cause a similar clinical
picture to Juvenile Polyposis Syndrome but are actually affected with Cowden syndrome
or other phenotypes of the PTEN harmatoma tumour syndrome.
Prognosis:
Solitary polyps have no significant risk of cancer. But multiple polyps (>5),
polyposis syndrome, of the colon carries a 10% risk of developing into cancer. This is
mainly because of juvenile polyps developing adenomatous tissue.
Screening and treatment:
People with juvenile polyps they require yearly upper and lower endoscopies with
polyp excision and cytology. Their siblings may also need to be screened regularly.[citation
needed]
Malignant transformation of polyps requires surgical colectomy.
Gardner's syndrome
Gardner syndrome, also known as familial colorectal polyposis,[1] is an
autosomal dominant form of polyposis characterized by the presence of multiple polyps
in the colon together with tumors outside the colon.[2] The extracolonic tumors may
include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas and sebaceous
cysts,[3] as well as the occurrence of desmoid tumors in approximately 15% of affected
individuals. The countless polyps in the colon predispose to the development of colon
cancer; if the colon is not removed, the chance of colon cancer is considered to be very
significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver,
mesentery and small bowel. In a small number of cases, polyps have also appeared in the
cerebellum. Cancers related to GS commonly appear in the thyroid, liver and kidneys.
At this time, there is no cure, and in its more advanced forms, it is considered a
terminal diagnosis with a life expectancy of 35–45 years; treatments are surgery and
palliative care, although some chemotherapy has been tried with limited success.[citation
needed]
Genetics:
Gardner syndrome has an autosomal dominant pattern of inheritance. Gardner
syndrome is inherited in an autosomal dominant manner. Typically, one parent has
Gardner syndrome. Each of their children, male and female alike, are at 50% risk of
inheriting the gene for Gardner syndrome. The risk increases in each succeeding
generation, as affected occurs (cluster studies appear by registry).
Cause:
Gardner syndrome is now known to be caused by mutation in the APC gene
located in chromosome 5q21 (band q21 on chromosome 5). This is the same gene as is
mutant in familial adenomatous polyposis (FAP), a more common disease that also
predisposes to colon cancer. New genetic and molecular information has caused some
genetic disorders to be split into multiple entities while other genetic disorders merge into
one condition. After existing for most of the second half of the 20th century, Gardner
syndrome has vanished as a separate entity. It has been merged into familial adenomatous
polyposis (FAP) and is now considered simply a phenotypic variant of FAP.
Diagnosis:
Gardner syndrome can be identified based on oral findings, including multiple
impacted and supernumerary teeth, multiple jaw osteomas which give a "cotton-wool"
appearance to the jaws, as well as multiple odontomas, congenital hypertrophy of the
retinal pigment epithelium (CHRPE), in addition to multiple adenomatous polyps of the
colon. Gardner syndrome is also associated with FAP (Familial Adenomatous Polyposis)
and may manifest as aggressive fibromatosis (desmoid tumors) of the retroperitoneum.
Management:
The initial treatment generally involves antibiotics for the bacterial overgrowth,
along with vitamin B12 supplementation. If antibiotics are not successful, surgical
correction of the obstruction to allow better flow of food through the intestine may be
considered
Solitary rectal ulcer syndrome
Solitary rectal ulcer syndrome is an uncommon rectal disorder that can present
with bleeding, passage of mucus, straining during defecation, and a sense of incomplete
evacuation. The lesion was first reported in 1829, but its clinical manifestations and
histopathology were not described until 1969. Because it is rare, its incidence is
uncertain, but has been estimated in one study to be 1 in 100,000. In one retrospective
study of 80 patients, the median age was 48 years with a range of 14 to 76 years. Men
and women appear to be affected equally although gender differences have been
suggested in various reports.
Clinical Features:
The name of the syndrome is misleading, since patients can often present with
lesions that are neither solitary nor ulcerated. The lesions are located in the anterior rectal
wall within 10 cm of the anal verge in the majority of patients. Endoscopic findings vary
and can include mucosal ulcerations, polypoid and mass lesions, or simply erythema. As
a result, misdiagnosis is common. In one study, as many as 26 percent of patients had
been initially diagnosed incorrectly, most commonly as having a nonspecific ulcer,
inflammatory bowel disease, or adenomatous change.
Symptoms are variable or may be absent. In one series the most common
symptoms were rectal bleeding (56 percent), straining (28 percent), and pelvic fullness
(23 percent) [6]. Mucous discharge, incontinence, tenesmus, and pain were less
frequently described.
Pathogenesis:
The pathogenesis of the solitary rectal ulcer is incompletely understood. However,
a number of factors appeared to have a causative role in individual reports. It is possible
that different etiologies may contribute to the development of the final lesion.
A common observation in a number of reports is rectal prolapse and paradoxical
contraction of the puborectalis muscle, which can result in rectal trauma by two different
mechanisms.
Hepatorenal syndrome
Hepatorenal syndrome (often abbreviated HRS) is a life-threatening medical
condition that consists of rapid deterioration in kidney function in individuals with
cirrhosis or fulminant liver failure. HRS is usually fatal unless a liver transplant is
performed, although various treatments, such as dialysis, can prevent advancement of the
condition.
HRS can affect individuals with cirrhosis (regardless of cause), severe alcoholic
hepatitis, or fulminant hepatic failure, and usually occurs when liver function deteriorates
rapidly because of an acute injury such as an infection, bleeding in the gastrointestinal
tract, or overuse of diuretic medications. HRS is a relatively common complication of
cirrhosis, occurring in 18% of cirrhotics within one year of their diagnosis, and in 39% of
cirrhotics within five years of their diagnosis.
Deteriorating liver function is believed to cause changes in the circulation that
supplies the intestines, altering blood flow and blood vessel tone in the kidneys. The renal
failure of HRS is a consequence of these changes in blood flow, rather than direct
damage to the kidney; the kidneys themselves appear normal to the naked eye and tissue
is normal when viewed under the microscope, and the kidneys even function normally
when placed in an otherwise healthy environment (such as if transplanted into a person
with a healthy liver). The diagnosis of hepatorenal syndrome is based on laboratory tests
of individuals susceptible to the condition. Two forms of hepatorenal syndrome have
been defined: Type 1 HRS entails a rapidly progressive decline in kidney function, while
type 2 HRS is associated with ascites (fluid accumulation in the abdomen) that does not
improve with standard diuretic medications.
The risk of death in hepatorenal syndrome is very high; the mortality of
individuals with type 1 HRS is over 50% over the short term, as determined by historical
case series. The only long-term treatment option for the condition is liver transplantation.
While awaiting transplantation, people with HRS often receive other treatments that
improve the abnormalities in blood vessel tone, including supportive care with
medications, or the insertion of a transjugular intrahepatic portosystemic shunt (TIPS),
which is a small shunt placed to reduce blood pressure in the portal vein. Some patients
may require hemodialysis to support kidney function, or a newer technique called liver
dialysis which uses a dialysis circuit with albumin-bound membranes to bind and remove
toxins normally cleared by the liver, providing a means of extracorporeal liver support
until transplantation can be performed.
Hepatorenal syndrome is a particular and common type of kidney failure that
affects individuals with liver cirrhosis or, less commonly, with fulminant liver failure.[1]
The syndrome involves constriction of the blood vessels of the kidneys and dilation of
blood vessels in the splanchnic circulation, which supplies the intestines.[2] The
classification of hepatorenal syndrome identifies two categories of renal failure, termed
type 1 and type 2 HRS, which both occur in individuals with either cirrhosis or fulminant
liver failure. In both categories, the deterioration in kidney function is quantified either
by an elevation in creatinine level in the blood, or by decreased clearance of creatinine in
the urine.[3]
Type 1 hepatorenal syndrome
Type 1 HRS is characterized by rapidly progressive renal failure, with a doubling
of serum creatinine to a level greater than 221 μmol/L (2.5 mg/dL) or a halving of the
creatinine clearance to less than 20 mL/min over a period of less than two weeks. The
prognosis of individuals with type 1 HRS is particularly grim, with a mortality rate
exceeding 50% after one month.[4] Patients with type 1 HRS are usually ill, may have low
blood pressure, and may require therapy with drugs to improve the strength of heart
muscle contraction (inotropes) or other drugs to maintain blood pressure (vasopressors).
Type 2 hepatorenal syndrome
In contrast, type 2 HRS is slower in onset and progression. It is defined by an
increase in serum creatinine level to >133 μmol/L (1.5 mg/dL) or a creatinine clearance
of less than 40 mL/min, and a urine sodium < 10 μmol/L. It also carries a poor outlook,
with a median survival of approximately six months unless the affected individual
undergoes liver transplantation. Type 2 HRS is thought to be part of a spectrum of illness
associated with increased pressures in the portal vein circulation, which begins with the
development of fluid in the abdomen (ascites). The spectrum continues with diureticresistant ascites, where the kidneys are unable to excrete sufficient sodium to clear the
fluid even with the use of diuretic medications. Most individuals with type 2 HRS have
diuretic-resistant ascites before they develop deterioration in kidney function.
Signs and symptoms:
Both types of hepatorenal syndrome share three major components: altered liver
function, abnormalities in circulation, and renal failure. As these phenomena may not
necessarily produce symptoms until late in their course, individuals with hepatorenal
syndrome are typically diagnosed with the condition on the basis of altered laboratory
tests. Most people who develop HRS have cirrhosis, and may have signs and symptoms
of the same, which can include jaundice, altered mental status, evidence of decreased
nutrition, and the presence of ascites. Specifically, the production of ascites that is
resistant to the use of diuretic medications is characteristic of type 2 HRS. Oliguria,
which is a decrease in urine volume, may occur as a consequence of renal failure;
however, some individuals with HRS continue to produce a normal amount of urine. As
these signs and symptoms may not necessarily occur in HRS, they are not included in the
major and minor criteria for making a diagnosis of this condition; instead HRS is
diagnosed in an individual at risk for the condition on the basis of the results of
laboratory tests, in the exclusion of other causes.
Causes:
Hepatorenal syndrome usually affects individuals with cirrhosis and elevated
pressures in the portal vein system (termed portal hypertension). While HRS may
develop in any type of cirrhosis, it is most common in individuals with alcoholic
cirrhosis, particularly if there is concomitant alcoholic hepatitis identifiable on liver
biopsies.[8] HRS can also occur in individuals without cirrhosis, but with acute onset of
liver failure, termed fulminant hepatic failure.
Certain precipitants of HRS have been identified in vulnerable individuals with
cirrhosis or fulminant hepatic failure. These include bacterial infection, acute alcoholic
hepatitis, or bleeding in the upper gastrointestinal tract. Spontaneous bacterial peritonitis,
which is the infection of ascites fluid, is the most common precipitant of HRS in cirrhotic
individuals. HRS can sometimes be triggered by treatments for complications of liver
disease: iatrogenic precipitants of HRS include the aggressive use of diuretic medications
or the removal of large volumes of ascitic fluid by paracentesis from the abdominal
cavity without compensating for fluid losses by intravenous replacement.
Diagnosis:
There can be many causes of kidney failure in individuals with cirrhosis or
fulminant liver failure. Consequently, it is a challenge to distinguish hepatorenal
syndrome from other entities that cause renal failure in the setting of advanced liver
disease. As a result, additional major and minor criteria have been developed to assist in
the diagnosis of hepatorenal syndrome.
The major criteria include liver disease in the setting of portal hypertension; renal
failure; the absence of shock, infection, recent treatment with medications that affect the
function of the kidney (nephrotoxins), and fluid losses; the absence of sustained
improvement in renal function despite treatment with 1.5 litres of intravenous normal
saline; the absence of proteinuria, or protein in the urine; and, the absence of renal
disease or obstruction of renal outflow as seen on ultrasound.
The minor criteria are the following: a low urine volume (less than 500 mL
(18 imp fl oz; 17 US fl oz) per day), low sodium concentration in the urine, a urine
osmolality that is greater than that in the blood, the absence of red blood cells in the
urine, and a serum sodium concentration of less than 130 mmol/L.
Many other diseases of the kidney are associated with liver disease and must be
excluded before making a diagnosis of hepatorenal syndrome. Individuals with pre-renal
failure do not have damage to the kidneys, but as in individuals with HRS, have renal
dysfunction due to decreased blood flow to the kidneys. Also, similarly to HRS, pre-renal
failure causes the formation of urine that has a very low sodium concentration. In contrast
to HRS, however, pre-renal failure usually responds to treatment with intravenous fluids,
resulting in reduction in serum creatinine and increased excretion of sodium.[3] Acute
tubular necrosis (ATN) involves damage to the tubules of the kidney, and can be a
complication in individuals with cirrhosis, because of exposure to toxic medications or
the development of decreased blood pressure. Because of the damage to the tubules, ATN
affected kidneys usually are unable to maximally resorb sodium from the urine. As a
result, ATN can be distinguished from HRS on the basis of laboratory testing, as
individuals with ATN will have urine sodium measurements that are much higher than in
HRS; however, this may not always be the case in cirrhotics.[5] Individuals with ATN
also may have evidence of hyaline casts or muddy-brown casts in the urine on
microscopy, whereas the urine of individuals with HRS is typically devoid of cellular
material, as the kidneys have not been directly injured.[3] Some viral infections of the
liver, including hepatitis B and hepatitis C can also lead to inflammation of the
glomerulus of the kidney.[9][10] Other causes of renal failure in individuals with liver
disease include drug toxicity (notably the antibiotic gentamicin) or contrast nephropathy,
caused by intravenous administration of contrast agents used for medical imaging
Pathophysiology:
The renal failure in hepatorenal syndrome is believed to arise from abnormalities
in blood vessel tone in the kidneys. The predominant theory (termed the underfill theory)
is that blood vessels in the renal circulation are constricted because of the dilation of
blood vessels in the splanchnic circulation (which supplies the intestines), which is
mediated by factors released by liver disease. Nitric oxide, prostaglandins, and other
vasoactive substances, have been hypothesized as powerful mediators of splanchnic
vasodilation in cirrhosis. The consequence of this phenomenon is a decrease in the
"effective" volume of blood sensed by the juxtaglomerular apparatus, leading to the
secretion of renin and the activation of the renin-angiotensin system, which results in the
vasoconstriction of vessels systemically and in the kidney specifically. However, the
effect of this is insufficient to counteract the mediators of vasodilation in the splanchnic
circulation, leading to persistent "underfilling" of the renal circulation and worsening
renal vasoconstriction, leading to renal failure.
Studies to quantify this theory have shown that there is an overall decreased
systemic vascular resistance in hepatorenal syndrome, but that the measured femoral and
renal fractions of cardiac output are respectively increased and reduced, suggesting that
splanchnic vasodilation is implicated in the renal failure. Many vasoactive chemicals
have been hypothesized as being involved in mediating the systemic hemodynamic
changes, including atrial natriuretic factor, prostacyclin, thromboxane A2, and endotoxin.
In addition to this, it has been observed that the administration of medications to
counteract splanchnic vasodilation (such as ornipressin, terlipressin, and octreotide) leads
to improvement in glomerular filtration rate (which is a quantitative measure of renal
function), in patients with hepatorenal syndrome, providing further evidence that
splanchnic vasodilation is a key feature of its pathogenesis.
The underfill theory involves activation of the renin-angiotensin-aldosterone
system, which leads to an increase in absorption of sodium from the renal tubule (termed
renal sodium avidity) mediated by aldosterone, which acts on mineralocorticoid receptors
in the distal convoluted tubule. This is believed to be a key step in the pathogenesis of
ascites in cirrhotics as well. It has been hypothesized that the progression from ascites to
hepatorenal syndrome is a spectrum where splanchnic vasodilation defines both
resistance to diuretic medications in ascites (which is commonly seen in type 2 HRS) and
the onset of renal vasoconstriction (as described above) leading to hepatorenal syndrome.
Budd–Chiari syndrome
In medicine (gastroenterology and hepatology), Budd–Chiari syndrome is the
clinical picture caused by occlusion of the hepatic veins. It presents with the classical
triad of abdominal pain, ascites and hepatomegaly. Examples of occlusion include
thrombosis of hepatic veins. The syndrome can be fulminant, acute, chronic, or
asymptomatic. It occurs in 1 out of a million individuals [1] and is more common in
females. Some 10-20% also have obstruction of the portal vein.
Signs and symptoms:
The acute syndrome presents with rapidly progressive: severe upper abdominal
pain, jaundice, hepatomegaly (enlarged liver), ascites, elevated liver enzymes, and
eventual encephalopathy. The fulminant syndrome presents early with encephalopathy
and ascites. Severe hepatic necrosis and lactic acidosis may be present as well. Caudate
lobe hypertrophy is often present. The majority of patients have a slower-onset form of
Budd–Chiari syndrome. This can be painless. A system of venous collaterals may form
around the occlusion which may be seen on imaging as a "spider's web." Patients may
progress to cirrhosis and show the signs of liver failure.
An asymptomatic form may be totally silent and discovered only incidentally. It is
generally not concerning.
Causes:

The cause cannot be found in about half of the patients

Primary (75%): thrombosis of the hepatic vein

Secondary (25%): compression of the hepatic vein by an outside
structure (e.g. a tumor)

Hepatic vein thrombosis is associated with the following in
decreasing order of frequency.
(A)Polycythemia vera (B)pregnancy (C)post partum state (D)use of oral
contraceptive (E)paroxysmal nocturnal hemoglobinuria (F)Hepatocellular carcinoma.

Infection such as TB

Congenital venous webs

Occasionally inferior vena caval stenosis
Often, the patient is known to have a tendency towards thrombosis, although
Budd–Chiari syndrome can also be the first symptom of such a tendency. Examples of
genetic tendencies include Protein C deficiency, Protein S deficiency, the Factor V
Leiden mutation, and Prothrombin Mutation G20210A.[2] An important non-genetic risk
factor is the use of estrogen-containing (combined) forms of hormonal contraception.
Other risk factors include the antiphospholipid syndrome, aspergillosis, Behçet's disease,
dacarbazine, pregnancy, and trauma.
Many patients have Budd–Chiari syndrome as a complication of polycythemia
vera (myeloproliferative disease of red blood cells). Patients suffering from paroxysmal
nocturnal hemoglobinuria (PNH) appear to be especially at risk for Budd–Chiari
syndrome, more than other forms of thrombophilia: up to 39% develop venous
thromboses and 12% may acquire Budd-Chiari.
A related condition is veno-occlusive disease, which occurs in recipients of bone
marrow transplants as a complication of their medication. Although its mechanism is
similar, it is not considered a form of Budd–Chiari syndrome.
Other toxicologic causes of veno-occlusive disease include plant & herbal sources
of pyrrolizidine alkaloids: Borage, Boneset, Coltsfoot, T'u-san-chi, Comfrey, Heliotrope
(sunflower seeds), Gordolobo, Germander, and Chaparral.
Pathophysiology:
Any obstruction of the venous vasculature of the liver is referred to as Budd–
Chiari syndrome, from the venules to the right atrium. This leads to increased portal vein
and hepatic sinusoid pressures as the blood flow stagnates. The increased portal pressure
causes: 1) increased filtration of vascular fluid with the formation of protein-rich ascites
in the abdomen; and 2) collateral venous flow through alternative veins leading to gastric
varices and hemorrhoids. Obstruction also causes centrilobular necrosis and peripheral
lobule fatty change due to ischemia. If this condition persists chronically what is known
as Nutmeg liver will develop. Renal failure may occur, perhaps due to the body sensing
an "underfill" state and subsequent activation of the renin-angiotensin pathways and
excess sodium retention.
Diagnosis:
When Budd–Chiari syndrome is suspected, measurements are made of liver
enzyme levels and other organ markers (creatinine, urea, electrolytes, LDH).
Budd–Chiari syndrome is most commonly diagnosed using ultrasound studies of
the abdomen and retrograde angiography. Ultrasound may show obliteration of hepatic
veins, thrombosis or stenosis, spiderweb vessels, large collateral vessels, or a hyperechoic
cord replacing a normal vein. Computed tomography (CT) or magnetic resonance
imaging (MRI) is sometimes employed although these methods are generally not as
sensitive. Liver biopsy is nonspecific but sometimes necessary to differentiate between
Budd–Chiari syndrome and other causes of hepatomegaly and ascites, such as
galactosemia or Reye's syndrome.
Treatment:
A minority of patients can be treated medically with sodium restriction, diuretics
to control ascites, anticoagulants such as heparin and warfarin, and general symptomatic
management. The majority of patients require further intervention. Milder forms of
Budd-Chiari may be treated with surgical shunts to divert blood flow around the
obstruction or the liver itself. Shunts must be placed early after diagnosis for best results.
The transjugular intrahepatic portosystemic shunt (TIPS) is similar to a surgical shunt. It
accomplishes the same goal but has a lower procedure-related mortality, which has led to
a growth in its popularity. Patients with stenosis or vena caval obstruction may benefit
from angioplasty. Limited studies on thrombolysis with direct infusion of urokinase and
tissue plasminogen activator (tPA) into the obstructed vein have shown moderate success
in treating Budd–Chiari syndrome; however, it is not routinely attempted.
Liver transplantation is an effective treatment for Budd-Chiari. It is generally
reserved for patients with fulminant hepatic failure, failure of shunts, or progression of
cirrhosis that reduces the life expectancy to 1 year. Long-term survival after
transplantation ranges from 69-87%. The most common complications of transplant
include rejection, arterial or venous thromboses, and bleeding due to anticoagulation. Up
to 10% of patients may have a recurrence of Budd–Chiari syndrome after the transplant.
Prognosis:
Several studies have attempted to predict the survival of patients with Budd–
Chiari syndrome. In general, nearly 2/3 of patients with Budd-Chiari are alive at 10 years.
[6]
Important negative prognostic indicators include ascites, encephalopathy, elevated
Child-Pugh scores, elevated prothrombin time, and altered serum levels of various
substances (sodium, creatinine, albumin, and bilirubin). Survival is also highly dependent
on the underlying cause of the Budd–Chiari syndrome. For example, patients with
myeloproliferative disorders may progress to acute leukemia independent of Budd–Chiari
syndrome.
Caroli disease
Caroli disease is a rare inherited disorder characterized by dilatation of the
intrahepatic bile ducts. There are two types of Caroli disease, the most common being the
simple, or isolated case where the bile ducts are widened by ectasia. The second, more
complex, cause is commonly known as Caroli Syndrome. This complex form is also
linked with portal hypertension and congenital hepatic fibrosis. The differences between
the causes of the two cases have not yet been discovered. Caroli disease is also associated
with liver failure and polycystic kidney disease. The disease affects about 1 in 1,000,000
people, with more reported cases of Caroli syndrome than of Caroli disease. [2]
Caroli disease also is known as communicating cavernous ectasia, or congenital
cystic dilatation of the intrahepatic biliary tree. Caroli disease is distinct from other
diseases that cause ducal dilatation caused by obstruction, in that it is not one of the many
choledochal cyst derivatives.
Symptoms:
The first symptoms typically include fever, intermittent abdominal pain, and
hepatomegaly. Occasionally jaundice occurs. Caroli disease usually occurs in the
presence of other diseases, such as autosomal recessive polycystic kidney disease,
cholangitis, gallstones, bilary abscess, septicemia, liver cirrhosis, renal failure, and
cholangiocarcinoma (7% affected).[1] People with Caroli disease are 100 times more at
risk for cholangiocarcinoma than the general population After recognizing symptoms of
related diseases, Caroli disease can be diagnosed.
Detection images:
Modern imaging techniques allow the diagnosis to be made more easily and
without invasive imaging of the biliary tree. Commonly the disease is limited to the left
lobe of the liver. Images taken by CT-scan, X-ray, or MRI will show enlarged
intrahepatic (in the liver) bile ducts due to ectasia. Using an ultrasound, tubular dilation
of the bile ducts can be seen. On a CT-Scan, Caroli disease can be observed by noting the
many fluid-filled, tubular structures extending to the liver.[6] A high contrast CT must be
used to distinguish the difference between stones and widened ducts. Bowel gas and
digestive habits make it difficult to obtain a clear sonogram, therefore, a CT scan is a
good substitution. When the intrahepatic bile duct wall has protrusions, it is clearly seen
as central dots or a linear streak. Caroli disease is commonly diagnosed after this “central
dot sign” is detected on a CT scan or ultrasound. However, cholangiography is the best,
and final, approach to show the enlarged bile ducts as a result of Caroli disease.
Morbidity:
Caroli disease is typically found in Asia and diagnosed in children under the age
of 22. Cases have also been found in both infants and adults. As medical imaging
technology improves, diagnostic age decreases. Morbidity is common and is caused by
complications of cholangitis, sepsis, choledocholithiasis, and cholangiocarcinoma. These
morbid conditions often prompt the diagnosis. Portal hypertension may be present,
resulting in other conditions including splenomegaly, hematemesis and melena. These
problems can severely affect the patient's quality of life. In a ten year period between
1995 and 2005, only ten patients were surgically treated for Caroli disease, with an
average patient age of 45.8 years.
After reviewing 46 cases of Caroli disease before 1990, it was found that 21.7%
of the cases were the result of an intraheptic cyst or non-obstructive biliary tree dilation,
34.7% were linked with congenital hepatic fibrosis, 13% were isolated choledochal cystic
dilation, and the remaining 24.6% had a combination of all three.
Mortality is indirect and caused by complications. After cholangitis occurs,
patients typically die within approximately 5–10 years.
Causes:
The cause appears to be genetic; the simple form is an autosomal dominant trait
while the complex form is an autosomal recessive trait.[1] Females are more prone to
Caroli disease than males.[3] Family history may include kidney and liver disease due to
the link between Caroli Disease and ARPKD.[10] PKHD1, the gene linked to ARPKD, has
been found mutated in patients with Caroli syndrome. PKHD1 is expressed primarily in
the kidneys with lower levels in the liver, pancreas, and lungs, a pattern consistent with
phenotype of the disease, which primarily affects the liver and kidneys.[1][10] The genetic
basis for the difference between Caroli disease and Caroli syndrome has not been
defined.
Treatment:
The treatment depends on clinical features and the location of the biliary
abnormality. When the disease is localized to one hepatic lobe, hepatectomy relieves
symptoms and appears to remove the risk of malignancy. Sometimes, if the disease is
isolated in one specific area, a lobectomy may be performed to remove the affected lobe,
relieving symptoms and removing the risk of malignancy. There is good evidence that
malignancy complicates Caroli disease in approximately 7% of cases.
Antibiotics are used to treat the inflammation of the bile duct, and
ursodeoxycholic acid for hepatolithiasis. Ursodiol is given to treat cholelithiasis. In
diffuse cases of Caroli disease, treatment options include conservative or endoscopic
therapy, internal biliary bypass procedures and liver transplantation in carefully selected
cases. Surgical resection has been used successfully in patients with monolobar disease.n
orthotopic liver transplant is another option, used only when antibiotics have no effect, in
combination with recurring cholangitis. With a liver transplant, cholangiocarcinoma is
usually avoided in the long run.
Family studies are necessary to determine if Caroli disease is due to inheritable
causes. Regular follow-ups, including ultrasounds and liver biopsies, are performed
Postcholecystectomy syndrome
Postcholecystectomy syndrome (PCS) describes the presence of abdominal
symptoms after surgical removal of the gallbladder (Cholecystectomy).
Symptoms of postcholecystectomy syndrome may include:

Upset stomach, nausea, and vomiting.

Gas, bloating, and diarrhea.

Persistent pain in the upper right abdomen[1]
Symptoms occur in about 5 to 40 percent of patients who undergo
cholycystectomy. [2]
The pain associated with post-cholecystectomy syndrome is usually ascribed to
either sphincter of Oddi dysfunction or to post-surgical adhesions [3] .
Approximately 50% of cases are due to biliary causes such as remaining stone,
biliary injury, dysmotility and choledococyst. The remaining 50% are due to non-biliary
causes. This is because upper abdominal pain and gallstones are both common but are not
always related.
Crigler–Najjar syndrome
Crigler-Najjar Syndrome or CNS is a rare disorder affecting the metabolism of
bilirubin, a chemical formed from the breakdown of blood. The disorder results in an
inherited form of non-hemolytic jaundice, often leading to brain damage in infants.
This syndrome is divided into two types: type I and type II, with the latter
sometimes called Arias syndrome. These two types, along with Gilbert's syndrome,
Dubin-Johnson syndrome, and Rotor syndrome, make up the five known hereditary
defects in bilirubin metabolism. Unlike Gilbert's syndrome, only a few hundred cases of
CNS are known to exist.
Crigler-Najjar syndrome, type I
This is a very rare disease (estimated at 0.6 - 1.0 per million live births), and
consanguinity increases the risk of this condition (other rare diseases may also be
present). Inheritance is autosomal recessive.
Intense jaundice appears in the first days of life and persists thereafter. Type 1 is
characterised by a serum bilirubin usually above 345 µmol/L (310 - 755) (whereas the
reference range for total bilirubin is 2 - 14 μmol/L).
No UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) expression
can be detected in the hepatic tissue. Hence, there is no response to treatment with
phenobarbital[1] (which causes enzyme induction). Most patients (type IA) have a
mutation in one of the common exons (2 to 5), and have difficulties conjugating several
additional substrates (several drugs and xenobiotics). A smaller percentage of patients
(type IB) have mutations limited to the bilirubin-specific A1 exon; their conjugation
defect is mostly restricted to bilirubin itself.
Prior to the availability of phototherapy, these children died of kernicterus
(=bilirubin encephalopathy), or survived until early adulthood with clear neurological
impairment. Today, therapy includes

exchange transfusions in the immediate neonatal period,

12h/d phototherapy

heme oxygenase inhibitors to reduce transient worsening of
hyperbilirubinemia (although the effect decreases over time)

oral calcium phosphate and -carbonate to form complexes with
bilirubin in the gut,

liver transplantation prior to the onset of brain damage, and before
phototherapy becomes ineffective at later age
Crigler-Najjar syndrome, type II
Differs from type I in several aspects:

bilirubin levels are generally below 345 µmol/L (100 - 430; thus,
there is overlap), and some cases are only detected later in life

because of lower serum bilirubin, kernicterus is rare in type II

bile is pigmented, instead of pale in type I or dark as normal, and
monoconjugates constitute the largest fraction of bile conjugates

UGT1A1 is present at reduced but detectable levels (typically
<10% of normal), because of single base pair mutations

therefore, treatment with phenobarbital is effective, generally with
a decrease of at least 25% in serum bilirubin. In fact, this can be used, along with
these other factors, to differentiate type I and II.

The inheritance pattern of Crigler–Najjar syndrome type II has
been difficult to determine, but is generally considered to be autosomal recessive.
Differential diagnosis:
Neonatal jaundice may develop in the presence of sepsis, hypoxia, hypoglycemia,
hypothyroidism, hypertrophic pyloric stenosis, galactosemia, fructosemia, and so on.
Hyperbilirubinemia of the unconjugated type may be caused by

increased production

hemolysis (e.g. hemolytic disease of the newborn, hereditary
spherocytosis, sickle cell disease)

ineffective erythropoiesis

massive tissue necrosis or large hematomas)

decreased clearance

drug-induced

physiological neonatal jaundice and prematurity

liver diseases such as advanced hepatitis or cirrhosis

breast milk jaundice and Lucey-Driscoll syndrome

Crigler–Najjar syndrome and Gilbert syndrome.
In Crigler–Najjar syndrome and Gilbert syndrome, routine liver function tests are
normal, and hepatic histology usually is too. There is no evidence for hemolysis. Druginduced case typically regress after discontinuation of the substance. Physiological
neonatal jaundice may peak at 85 - 170 µmol/L, and decline to normal adult
concentrations within 2 weeks. Prematurity results in higher levels.
Hepatopulmonary syndrome
In medicine, hepatopulmonary syndrome is a syndrome of shortness of breath
and hypoxemia (low oxygen levels in the blood of the arteries) caused by vasodilation
(broadening of the blood vessels) in the lungs of patients with liver disease. Dyspnea and
hypoxemia are worse in the upright position (which is called platypnea and orthodeoxia,
respectively).
Diagnosis:
The hepatopulmonary syndrome is suspected in any patient with known liver
disease who reports dyspnea (particularly platypnea). Patients with clinically significant
symptoms should undergo pulse oximetry. If the syndrome is advanced, arterial blood
gasses should be measured on air.
A useful diagnostic test is contrast echocardiography. Intravenous microbubbles
(> 10 micrometers in diameter) from agitated normal saline that are normally obstructed
by pulmonary capillaries (normally <8 to 15 micrometers) rapidly transit the lung and
appear in the left atrium of the heart within 7 heart beats. Similarly, intravenous
technetium-99m–labeled albumin may transit the lungs and appear in the kidney and
brain. Pulmonary angiography may reveal diffusely fine or blotchy vascular
configuration. The distinction has to be made with an intracardiac right-to-left shunt.
Disease mechanism
The hepatopulmonary syndrome results from the formation of microscopic
intrapulmonary arteriovenous dilatations in patients with both chronic and acute liver
failure. The mechanism is unknown but is thought to be due to increased hepatic
production or decreased hepatic clearance of vasodilators, possibly involving nitric oxide.
The vascular dilatations cause overperfusion relative to ventilation, leading to
ventilation-perfusion mismatch and hypoxemia. There is an increased alveolar-arterial
partial pressure of oxygen gradient while breathing room air. Additionally, late in
cirrhosis, it is common to develop high output failure, which would lead to less time in
capillaries per red blood cell, exacerbating the hypoxemia.
Treatment
Currently the only definitive treatment in liver transplant. Alternative treatments
such as supplemental oxygen or somatostatin to inhibit vasodilation remain anecdotal.