Disease
Underlying Cause/
Inheritance
Genetic mutation of the
CFTR protein; AR
Normal Function
Diseased Function
Symptoms/ Diagnosis
Treatment
The CFTR protein transports ions
like Cl- through the membrane of
the epithelia cells and helps regulate
fluid and electrolyte balance. In
cells like lungs, sinuses, pancreas,
intestines, sweat glands.
Viscous secretions obstruct organs
because Cl- is not excreted out so
Na+ absorption is increased (and it
absorbs with water). This causes the
membranes to be dehydrated and
leads to the mucus being sticky
Symptoms include: salty
skin, distended abdomen,
coughing/increased mucus,
infertility, clubbed fingers.
Testing: sweat chloride test,
newborn screening, DNA
test
G6PD Deficiency
Deficient function of
G6PD; X-linked R
G6PD is responsible for converting
NADP+ to NADPH in RBC's which
helps fight oxidative stress by
reducing GSSG to GSH.
Methemoglobemia
Increased
methemoglobin
concentration in the
blood; not inherited but
can be caused by drugs
(sulfa drugs or dapsone)
or diseases like G6PD
deficiency
Depletion of plasma
membrane in RBC's;
AD
When something (like a drug)
oxidizes Fe2+ Hgb to met (Fe3+)
Hgb, the body uses methemoglobin
reductase and NADPH to reduce it
back to Fe2+
Without NADPH and GSH, the
RBC's cannot fight off oxidative
stress and undergo hemolysis
causing anemia and jaundice
(increase in bilirubin, a blood
breakdown product)
If there is a lack of NADPH and an
oxidizer affecting the blood, the met
Hgb percentage increases. Met Hgb
binds to oxygen tighter, but does not
let it go, reducing the oxygen that
goes to the tissues
Often asymptomatic unless
triggered (illness,
antibiotics like sulfa drugs).
Symptoms include rapid
breathing, jaundice, rapid
heartbeat, anemia
Symptoms include
chocolate brown blood,
cyanosis
Testing can be done in lab
with the hemoglobin
Management includes airway
clearance techniques and
inhaled medications to break
up mucus, pancreatic enzymes.
N-acetylcysteine can be used to
break up the mucus as well.
Some treatment may be based
upon class with Class 1 being
no functional enzyme created
and Class 6 being less-thannormal functioning enzyme.
Often okay without treatment.
In hemolytic anemia, blood
transfusions may be necessary.
Autoimmune disorder
in which antibodies
binding to acetylcholine
receptors in the neuromuscular junction; not
typically inherited
through family
Normally when impulses travel
down the nerve, the nerve endings
release a neurotransmitter substance
called acetylcholine, which travels
through the short neuromuscular
junction and results in the activation
of muscle contraction.
Action potential → motor nerve
→ nerve terminal → Ach released
→ combine with AChRs at
postsynaptic fold → channel opens
→ Na+ enters → depolarization at
end-plate of muscle fiber
→ triggers actions potential
→ muscle contraction
→ termination via hydrolysis of
ACh via ACh Esterase
As the plasma membrane is depleted
in the cells, they cannot deform and
thus can be trapped in
microcirculation like in the spleen
and are increasing fragile due to the
membrane not able to withstand
swelling
MG occurs due to antibodies binding
to ACh receptors in the NMJ. This
causes receptors to be
blocked/degraded, decreasing the
amount of sodium that can flow
through nicotinic receptors when
ACh is released, and ultimately
make it more difficult for end-plate
potentials to occur.
Enlarged spleen, jaundiced
eyes, right shifted osmotic
fragility curve, blood smear
with spherocytes (small,
dark, apparently dense red
cells without the usual
central pallor)
The cardinal features are
weakness and fatigability of
muscles. The weakness
increases during repeated
use (fatigue) or late in the
day and may improve
following rest or sleep.
Diagnosis is difficult
because a lot of diseases
closely resemble MG, there
is no definitive test, and
treatment may involve
surgery and harsh drugs.
Tests include ice pack test,
serum acetylcholine
receptor antibody test,
repetitive nerve stimulation
Cystic Fibrosis
Hereditary
Spherocytosis
Myasthenia Gravis
RBC's need to be deformable to fit
through various tight spaces in
circulation, so it relies on its plasma
membrane to be able to move but
still be stable
Removal of oxidizing
substance, supplemental
oxygen, methylene blue
(contraindicated in G6PD
deficiency)
No treatment needed, but
should avoid contact sports
because of danger to spleen.
Treatment: oral
anticholinesterase,
glucocorticoids and
immunosuppressant drugs,
intravenous immune globulin,
plasmapheresis (directly
removes acetylcholine
inhibitors from body)
Acetylcholine Toxicity/
Organophosphate
Poisoning
Poisoning by
cholinesterase
inhibitors, not inherited
Acetylcholine is a neurotransmitter
that activates nicotinic and
muscarinic receptors in the nervous
system. It is normally degraded by
cholinesterase.
Organophosphates are cholinesterase
suicide inhibitors, which cause an
excess of acetylcholine (ACh) in the
synapse. This leads to
parasympathetic excess and can lead
to death.
Diabetes Type 2
Endocrine disorder
characterized by high
glucose due to body's
reduced ability to
produce insulin or
reduced ability to
respond to it.
Lots of risk factors
including health and
genetics.
Over production or
impaired removal of
cholesterol (LDL).
Lots of risk factors
including health and
genetics.
Glycogen storage
disease resulting from
glucose-6-phosphatase
deficiency; AR
Insulin normally functions to bring
in glucose to the cells through the
transporter GLUT4 (only one that is
insulin dependent). It also promotes
glycolysis.
Insulin resistance and abnormal
insulin secretion are central to the
development of type 2 DM.
Although the primary defect is
controversial, most studies support
the view that insulin resistance
precedes an insulin secretory defect
but that diabetes develops only when
insulin secretion becomes
inadequate.
With hypercholesterolemia,
individuals have too much LDL and
too little HDL. This causes excess
cholesterol in the body which can
lead to atherosclerosis.
Lack of insulin
response leads to
accumulation of ketone
breakdown from fat; not
inherited
Normally insulin is used to take in
glucose and that is broken down for
energy. In fasting fats may also be
broken down, which produce
ketones but the liver also produces
glucose through gluconeogenesis.
Familial
Hypercholesterolemia
Von Gierke Disease
Diabetic Ketoacidosis
LDL is the lipoprotein that brings
cholesterol into the body to be
incorporated into cell. HDL is the
lipoprotein that brings cholesterol to
the liver to be degraded by bile and
recycled.
Glucose-6-phosphotase is the last
step in gluconeogenesis that creates
glucose from glucose-6-phosphate
In this disease, although the liver is
able to create and break down
glycogen, it is unable to release
glucose into the blood. The result is
poor glucose control and marked
fasting hypoglycemia.
In diabetic ketoacidosis, the fats are
broken down into ketones but the
body does not have insulin to
regulate when to stop the breakdown
of fats thus they are overproduced
and the body.
test among others
Symptoms resulting from
parasympathetic excess can
be summarized by the
mnemonic DUMBBELSS:
Diarrhea, Urinary
incontinence, Miosis,
Bronchospasm,
Bradycardia, Excitation of
skeletal muscle and central
nervous system,
Lacrimation, Sweating, and
Salivation. Central nervous
system effects, such as
confusion or slurred speech,
are common.
Symptoms include
increased thirst and hunger,
weight loss, fatigue, blurred
vision, acanthosis nigricans
(dark spots on skin), and
slow healing sores/frequent
infections.
Atropine and pralidoxime (2PAM) can reverse
organophosphate poisoning.
Atropine works by inhibiting
muscarinic receptors (it has
little effect at nicotinic
receptors), thereby decreasing
the effect of acetylcholine. 2PAM works by inhibiting the
binding of organophosphates to
acetylcholinesterase.
Lifestyle changes, metformin,
insulin, anti-hypertension and
cholesterol lowering drugs
High blood pressure, high
LDL, low HDL, overweight
Lifestyle changes, HMG-CoA
inhibitor, niacin
Seizures, restlessness,
vomiting, and sweating that
most commonly occur
between meals and subside
after feeding. Small and
protuberant abdomen, liver
below the costal margin,
and xanthomas,
hepatomegaly and
bilaterally enlarged
kidneys.
Symptoms include
excessive thirst, frequent
urination, nausea and
vomiting, abdominal pain,
weakness or fatigue,
shortness of breath, fruityscented breath, confusion.
Testing is done by looking
Treatment consists of frequent
meals to prevent
hypoglycemia. Some patients
make cornstarch a central part
of their diet because it is
absorbed slowly and provides a
steady glucose supply.
Allopurinol is often used for
gout. Liver transplantation is
curative.
Treatment is replenishing
fluids as individuals are often
dehydrated and giving insulin,
but should always give K+ as
well.
at glucose, ketone and
lactate levels.
Alcoholic Ketoacidosis
Ketoacidosis due to
alcohol intake instead
of diabetes
Ethanol breakdown creates a lot of
NADH which in moderation is
completely fine to the body and the
body can run both glycolysis and
ethanol breakdown
If the ethanol breakdown is
excessive, there is too much NADH
in circulation and the body diverts
glucose to other pathways to use up
the NADH like lactate and malate.
Symptoms are the same as
diabetic ketoacidosis
Argininosuccinic
academia (Urea Cycle
Disorders)
Defect in
arginoscuccinate lyase;
all Urea Cycle disorders
are AR except ornithine
transcarbamylase
deficiency which is Xlinked
Deficiency of the
branched chain alphaketoacid dehydrogenase
complex (BCKDC)
The urea cycle works to transform
toxic ammonia into urea so it can be
safely excreted from the body.
With a malfunctioning enzyme in
the urea cycle, there is a build up of
certain cycle intermediates as well as
a build-up of ammonia in the body
causing hyperammonemia.
Branched chain amino acids are
broken down into ketoacids and
then broken down by BCKDC. They
are later converted into propionylCoA and methomalonyl-CoA
(isoleucine and valine) or acetylCoA and acetoacetate (leucine)
Without the BCKDK, there is an
accumulation of ketoacids in the
body and they cannot be degraded
Gout
Accumulation of urate
crystals in joint; can
happen to anyone, but
certain genetics traits
can make it more likely
The breakdown of DNA and RNA
create xanthine which is further
broken down into uric acid where it
is excreted by the kidneys as urate.
Due to the production of too much
urate or the excretion of too little
uric acid, uric acid builds up in the
joints as crystals which become
inflamed and are very painful.
Homocystinuria
Reduced activity of
cystathionine synthase
(most common but
there are 2 other types);
AR
Methionine is converted to cysteine
through several enzymes, one of
which is cystathionine synthase.
Without the full activity of the
enzyme, homocysteine is built up
and methionine cannot be fully
metabolized and cysteine becomes
an essential amino acid.
Symptoms include muscle
weakness, fatigue, liver and
kidney damage, and
seizures. Testing can be
done by looking at
enzymatic function and the
intermediate build-up.
Symptoms include maple
syrup sugar odor in sweat,
ear wax and urine,
vomiting, anorexia, muscle
fatigue, and neurologic
symptoms.
Testing can be done in
prenatal screening.
Intense joint pain, lingering
discomfort, inflammation
and redness.
The only sure diagnosis can
come from joint fluid test
where the crystals are
looked at to see if it's uric
acid (but people tend to not
like that)
Vision difficulties
(dislocated lenses), tall, thin
body with long extremities
(similar to Marfan
syndrome)
Osteogenesis
Imperfecta
Defect in type I
collagen; various
patterns of inheritance,
but often AD and
spontaneous mutations
are common
Collagen I is in the bones, tendons,
ligaments, and sclera. It is
synthesized from 3 alpha chains
which then are cleaved and formed
into collage fibrils. These are then
used in connective tissue to provide
resistance to force, tension and
stretch.
Due to a mutation in the collagen,
it cannot form the alpha helix
properly. This causes significant
bone fragility due to the disruption
of the bone matrix with the
malformed collagen
Maple Syrup Urine
Disease
Malformed body, loose
ligaments, muscle
weakness, curved spine,
frequent fractures.
Can be tested using skin
biopsy and DNA testing.
Both are as the biopsy
looks at the extent of
collagen malfunction and
the DNA test looks at
Treatment is replenishing
fluids, thiamine/Mg (must give
this with any glucose) to
prevent Wernicke-Korsakoff
(complete thiamine deficiency).
In some cases other drugs may
be given to fix the
NADH/NAD+ ratio.
Treatments include arginine
supplementation, hemodialysis,
low protein diet and
hyperammonemia drugs.
Special diet of purified amino
acids
Anti-inflammatory drugs,
medication that block xanthine
oxidase, and medicine that
improve urate removal.
Vitamin B6 (pyridoxine) is a
necessary cofactor with
cystathionine synthase. A diet
low in methionine and cysteine
supplementation is also
necessary.
Minimizing fractures, braces,
physical therapy
Fragile X Syndrome
Mutation in FMR1 gene
causing mental
retardation; X-linked
with anticipation
The FMR1 gene makes the FMRP
which helps regulate protein
production in synapses.
In the full mutation, due to CGG
repeats, the protein is not produced
causing mental retardation. A premutation can occur in individuals
with <200 repeats and have
generally milder symptoms
Ehlers-Danlos
Syndrome
Mutation of type III
collagen; inheritance
varies by type, but most
are AD
Collagen III is located in tissues,
organs, smooth muscle and blood
vessels. It is produced in the same
manner as collagen I.
Non-syndromic
Deafness
Hearing loss with no
other symptoms (many
different mutations but
most often GJB2); most
inheritance is AR
Lysosomal storage
disease due to a defect
in the HEXA gene; AR
GJB2 and GJB6 provide instructions
for making connexin which are
subunits of gab junctions. These gap
junctions allow communication
between neighboring cells.
The HEXA gene provides
instructions for making part of an
enzyme, beta-hexosaminidase A,
which plays a critical role in the
brain and spinal cord. This enzyme
is located in lysosomes. Within
lysosomes, beta-hexosaminidase A
helps break down a fatty substance
called GM2 ganglioside.
The defect in Ehlers-Danlos causes
frequent bruising due to the
abnormal collagen in the blood
vessels among other symptoms (but
much milder issues compared to OI)
Without the gap junctions, so of the
cells are damaged due to ion
accumulation (K+) and thus hearing
is lost.
Disruption of
dystrophin causing
muscle wasting; AR
2 main types
Duchenne's (severe) and
Becker's (mild)
Dystrophin normally provides
mechanical reinforcement to the
sarcolemma and stabilizes the
glycoprotein complex, thereby
shielding it from degradation.
Tay-Sachs Disease
Muscular Dystrophy
Mutations in the HEXA gene disrupt
the activity of beta-hexosaminidase
A, which prevents the enzyme from
breaking down GM2 ganglioside. As
a result, this substance accumulates
to toxic levels, particularly in
neurons in the brain and spinal cord.
Progressive damage caused by the
buildup of GM2 ganglioside leads to
the destruction of these neurons,
which causes the signs and
symptoms of Tay-Sachs disease.
Mutations in the DMD gene alter the
structure or function of dystrophin or
prevent any functional dystrophin
from being produced. Muscle cells
without enough of this protein
become damaged as muscles
repeatedly contract and relax with
use. The damaged fibers weaken and
die over time, leading to the muscle
weakness and heart problems
characteristic of Duchenne and
Becker muscular dystrophies.
Mutations that lead to an abnormal
version of dystrophin that retains
some function usually cause BMD.
mutations alone.
Full mutation: large face,
enlarged testes,
developmental delay. Girls
may have the full mutation
due to nonrandom X
chromosome inactivation.
Pre-mutation: tremor and
ataxia and premature
ovarian insufficiency
Testing is done through
DNA or chromosome
analysis
Hyperextendible joints, flat
feet, frequent bruising,
frequent dislocation, dental
crowning. Can be tested
through DNA analysis
Loss of hearing
No treatment. Special
education can be used to help
with some of the neurologic
symptoms
No treatment
No treatment
Progressive
neurodegeneration,
developmental delay,
cherry red spot on macula
No treatment
In boys with Duchenne
muscular dystrophy, muscle
weakness tends to appear in
early childhood and worsen
rapidly. Affected children
may have delayed motor
skills, such as sitting,
standing, and walking.
The signs and symptoms of
Becker muscular dystrophy
are usually milder and more
varied. In most cases,
muscle weakness becomes
apparent later in childhood
or in adolescence and
worsens at a much slower
There is no treatment
Phenylketonuria (PKU)
Deficient function of
phenylalanine
hydroxylase (PAH);
AR
PAH is responsible for converting
phenylalanine into other important
components of the body (one of
which is tyrosine)
Without PAH, there is a buildup of
phenylalanine and a lack of tyrosine.
There are different forms of PKU:
the classic is the most severe with
little to no function of PKU, milder
forms like variant PKU may not
require treatment.
Hereditary BreastOvarian Cancer
Syndrome (HBOC)
Mutation of the
BRCA1/2 gene; AD
BRCA1 and 2 are tumor suppressor
genes involved in the repair of
double strand breaks, specifically
the error-free homologous
recombination.
Mutated BRCA 1 or 2 make DNA
repair rely on non-homologous end
joining for repair and (including
creation of dicentric chromosomes)
and can often lead to cancer.
Retinoblastoma
Mutation of RB1 gene;
germline
Retinoblastoma appears
to be AD (one inherited
gene is sufficient to
increase cancer risk),
but need two RB1
mutations (loss of
heterozygosity)
RB1 is a tumor suppressor gene that
codes for RB. RB keeps the cell
cycle from progressing past G1 by
binding to the transcription factor
E2F.
Without a functioning RB, the cell
cycle cannot be regulated at that
point, leading to cell cycle
dysregulation and cancer
Xeroderma
Pigmentosum
Deficient in proteins
involved in global
genome nucleotide
excision repair (GGNER); AR
With no GG-NER, the body cannot
repair damage due to UV radiation
and the likelihood of getting skin
cancer increases 1000 fold
Lynch Syndrome;
Hereditary
Nonpolyposis
Colorectal Cancer
(HNPCC)
MMR gene mutation
(MSH2, MLH1, MSH6,
PMS2); appears AD but
inactivation of both
needed
The GG-NER can fix nucleotide
errors anywhere in the DNA (not
just on the transcribed strand) and is
much slower than the other TCNER. The GG-NER is particularly
important with fixing pyrimidine
dimers which occur due to UV
radiation.
MMR fixes mismatched bases by
recognizing, removing, and
rewriting the DNA (template and
nascent strands distinguished by
single stranded breaks on nascent
strand)
Non-Small Cell Lung
Cancer (NSCLC)
Lung cancer is caused
by a stepwise
accumulation of genetic
abnormalities (smoking
is a major cause); not
inherited
Non-Small Cell Lung Cancer:
There are different types of NSCLC
(adenocarcinoma is most common
follow by squamous cell, then large
cell carcinoma)
Superior Vena Cava
Caused by gradual
The superior vena cava is a large
Some important carcinogens are Nnitrosamines (create DNA adducts
and interfere with DNA replication)
and Benzo(a)pyrene (metabolite
BDP induces transversion G to A
and inactivates p53, a tumor
suppressor)
Compressing a major vein is bad for
Without MMR, there microsatellite
instability (MSI). Errors are likely to
occur on the microsatellites
(repeated DNA sequences), which
can then cause frameshift mutations
as these microsatellites expand or
contract leading to cancer.
rate.
Mental retardation, mousy
odor (due to the increase in
Phe), decreased
pigmentation (decrease in
Tyr as it is a precursor to
melanin). Part of the
newborn screening test,
which looks at
hyperphenylalaninemia.
Increased risk of breast,
ovarian, prostate cancers;
genetic testing can be done
to find the mutated BRCA
genes
Leukocoria (white
reflection in eye),
Strabismus (lazy eye). In
the germline mutation,
children are most likely
affect and it occurs in both
eyes; in the somatic
mutation, adults are more
likely affect and in only one
eye.
Freckles, changes in
pigmentation (both
hypopigmentation and
hyperpigmentation), and
dry skin after sun exposure.
Testing can be done by
doing a skin biopsy and
looking at the DNA repair
Symptoms include rectal
bleeding, predominately
right sided cancer, and
changes in bowel habits.
Amsterdam Criteria for
HNPCC: 3 family members
with colorectal cancer, 2
successive generation, 1
diagnosis before 50
Often only see symptoms of
lung cancer in advanced
stages and include
coughing, dyspnea,
hemoptysis, chest pain.
Diagnosis is through chest
X-rays
SVC syndrome typically
Low Phe diet and Tyr
supplements. Pregnant mothers
with PKU need to be on a Phefree diet to prevent newborn
being born mentally retarded
Surgical treatment
recommended is mastectomy
due to the high chance of
recurrent breast cancers,
radiation therapy and
chemotherapy
Surgery (eye removal),
radiation, chemotherapy, and
other forms of cancer
treatment
No cure; sun avoidance,
frequent skin and eye exams
are used to prevent cancer.
Typical cancer treatments
including surgery, radiation,
chemotherapy. Frequent
colonoscopies are also
recommended to find cancer
early.
Stage I, II, and some III
cancers can be treated with
surgery. Systemic treatment is
given for advanced stages of
cancer. Overall, prognosis for
lung cancer is one of the
poorest of all cancers.
Treatment is most often fixing
Syndrome (SVCS)
compression of the
superior vena cava from
an enlarging mass (most
often lung cancer, can
also be lymphoma, and
metastatic cancer); not
inherited
vein that transmits blood from the
upper body back to the heart.
the body
X-linked Hyper IgM
Syndrome
Mutations in the
CD40L gene; XL
CD40L is present on T cells and
binds to CD40 which is on APC
(including B cells). Connection is
needed for the B cells to undergo
heavy chain class switching and
produce IgG, IgA, IgE antibodies.
Without heavy chain class
switching, the immune system
cannot respond as readily to
pathogens in the adaptive system.
Immune memory may also not be
functional due to the lack of
antibody differentiation.
IgA Deficiency
Most common primary
immunodeficiency
disease; body does not
produce IgA; both AD
and AR
(may occur with other
Ig deficiencies or alone)
IgA antibodies are mostly found in
the secretions of mucosal surfaces
so protects from infection in those
areas.
Tuberculosis (TB)
Caused by inhalation of
Mycobacterium
tuberculosis; very
infectious and
transmitted through
droplets
Epidemiology:
Bacteria is a slow growing, and
stains with acid-fast stains. Found
predominantly in Africa and parts of
Asia. (1/3 of the world is latently
infected)
Without IgA, more prone to
infections of the lungs, ears, and GI.
When exposed to blood containing
IgA, will have an anaphylaxis
reaction due to IgG antibodies
present against IgA. There is an
increased risk of developing other
autoimmune diseases as well as
intestinal diseases due to the higher
chance of developing a food allergy
without IgA in the intestines (celiac
disease and milk allergy)
Latent TB and active forms; only a
small amount of individuals with TB
get the active form
(HIV/immunosuppressed). Miliary
TB can occur in kids and causes
widespread disease.
Malaria
Plasmodium species (P.
falciparum, P. vivax, P.
malariae, P. ovale, P.
knowlsei), vector is the
female Anopheles
mosquito
Malaria Life Cycle: Sporozoites
released into the blood and infect
the liver (exoerythrocytic phase) and
develop into merozoites (motile,
infective stage), which are released
and invade RBCs in the peripheral
blood. Asexual reproduction in
RBCs lead to release of more
merozoites. Some gametocytes are
produced which leads to sexual
P. falciparum can is more like
severe malaria (especially cerebral
malaria)
P. ovale and vivax can arrest as
hypnozoites and relapse.
has an insidious onset, with
dyspnea, and may include
cough, upper extremity
swelling, chest pain and
dysphagia due to
esophageal compression.
Common physical findings
include venous distention
of the neck and chest wall,
facial edema, plethora, and
cyanosis. Diagnosis is often
done through contrastenhanced CT scan
Frequent pyogenic
infections and pneumonia.
Lots of tests are given
including: CBC,
quantitative Ig test (looks at
Ig types), lymphocyte
phenotype analysis, T cell
CD40L levels
Many individuals are
asymptomatic, but may
have had frequent ear and
lung infections as well as
issues in their GI tract.
Diagnosis seen through
blood tests where IgA is at
undetectable levels
the underlying cause of the
compression or obstruction
Night sweats, coughing,
shortness of breath, weight
loss, fever. Diagnosis is
done through PPD and
IGRA (blood test) to test
infection. Disease can be
confirmed through PCR
and cultures.
Fever and chills often with
a periodicity. Possibly
anemia and splenomegaly.
Severe malaria is when
many RBCs have the
parasite and they stick to
blood vessels causing
seizures, coma, respiratory
distress, renal failure, liver
failure and hypoglycemia.
Active TB treatment: 4-drug
regimen (isoniazid, rifampin,
pyrazinamide, and either
ethambutol or streptomycin);
must be at least 2.
Latent TB treatment: one drug
is okay, often rifampin or
isoniazid
Chloroquine is used for
malaria that is sensitive to it. It
will not kill hypnozoites so for
P. ovale and vivax chloroquine
and primaquine are given
Antibiotics for infections, IgG
therapy, bone marrow
transplant (only curative
therapy)
For individuals experiencing
anaphylaxis due to blood
transfusions, they should be
stopped and given epinephrine,
which counteracts the
bronchospasms and
vasodilation
reproduction in the female
Anopheles mosquito
Neonatal Sepsis
Group B Streptococcus
(GBS), E. coli, and
Listeria monocytogenes
are common causes of
sepsis
Sepsis definition:
SIRS plus source of infection
SIRS (Systemic Inflammatory
Response Syndrome) is:
Fever > 100°F or < 96.8°F
Heart rate > 90 bpm
Respiratory > 20 bpm
Abnormal WBC count (>12,000/µL
or < 4,000/µL)
GBS often colonize the vaginal
flora and can be transmitted during
delivery, so neonatal sepsis is likely
to be due to GBS. Prenatal testing
where vaginal cultures are
performed try to prevent this
Influenza
Influenza virus, Type
A, B and C; transmitted
through droplets
Virus:
Virus is a linear single stranded
negative segmented genome, helical
and enveloped
Antigenic shift/drift:
Antigenic drift caused by inefficient
proofreading leading to small
changes (both A and B can do this)
Follows through regular replication
cycle as RNA viruses, except
transcription and replication occur
in the nucleus
Antigenic shift caused by
simultaneous infections of two
viruses which create a virus with
new surface proteins (H and N are
different; only occurs in A)
The virus preferentially kills CD4 T
cells and uses the others as virus
reservoirs. The decrease in CD4 T
cells and rise in virus is correlated
with disease progression. There is a
period of latency after the initial
infection that can last about 10 years
without treatment. When CD4 T
cells drop below 200, the disease is
considered to progress to AIDS and
many opportunistic infections are
possible
HIV
HIV virus; transmitted
through sexual contact,
injection drug use,
pregnancy, and rarely
blood transfusions
Aspergillus Infections
Infection with
Aspergillus (Aspergillus
fumigatus is most often
seen)
Virus:
Lentiviruses of the subfamily
retrovirus; are enveloped and have a
complex capsids. They have a linear
single stranded positive sense
diploid genome
Uses the CD4 molecules as
receptors and enters T cells,
monocytes/ macrophages, and
dendritic cells (and also use
chemokine surface co-receptor
CCR5CXCR4). It integrates
genome into the host using integrase
and produces more viruses.
Epidemiology:
Found commonly in nature, even in
air ventilation ducts
Can cause 3 main diseases:
Allergic bronchopulmonary
aspergillosis (ABPA): a reaction to
colonization in airways similar to
asthma
Invasive aspergillosis (IA): Occurs
in patients with prolonged
neutropenia. Seen as infarcts in
Diagnosis is through thick
smears (easier to see
parasites), and thin smears
(morphology). The
headphone shape is
consistent with P.
falciparum
Symptoms see sepsis
definition.
Diagnosis with Gram
staining of a blood sample:
GBS appear as grampositive cocci, L.
monocytogenes appears as
motile gram-positive rods,
and E. coli appears as
gram-negative rods.
Fever, body aches,
coughing, chills
Diagnosis is done through a
nasal pharyngeal swab
Penicillin is used as antibiotic
treatment for GBS.
Vaccine is the best way to
prevent illness. Often does not
need to be treated, but high risk
groups may take
neuroaminidase inhibitors
(oseltamivir and zanamivir)
Flu-like symptoms at the
onset and a period of
latency. Symptoms of
AIDS include night sweats,
swollen lymph nodes,
weight loss, easy bruising,
lethargy, shortness of
breath
Diagnosis is done through
rapid HIV test, CD4/CD8
count, HIV viral load
Treatment involves at least 3
drugs; classes of these drugs
are: reverse transcriptase
inhibitors (NRTIs and
NNRTIs), fusion/entry
inhibitors, integrase inhibitors
and protease inhibitors. Usually
2 NRTIs and 1 other class.
Symptoms include asthma
like symptoms, cough,
hemoptysis.
Diagnosis is done through
staining: Aspergillus
infections appear as
sepatated hyphae with 45
degree branching
ABPA is treated with steroids,
IA is treated with antifungals
like voriconazole and
amphotericin B, and
Aspergilloma is not treated but
fungus may be surgically
removed.
lungs, sinuses, and brain; poor
outcome
Celiac Disease
Production of antitissue transaminases
IgA
Epidemiology:
Common in Caucasians, highest
incidence infancy but may appear
during pregnancy or later in life.
Celiac disease is an autoimmune
disease a correlation with type 1
diabetes and other autoimmune
diseases
Diabetes Type 1
Body damages the
insulin producing beta
cells in the body;
familial predisposition
but inheritance pattern
is unknown
Insulin is used to move glucose in
the bloods into cells (use the
GLUT4 transporter)
Aspergilloma of fungus ball in preexisting cavity (can sometimes be
seen in past TB patients). Not
invasive
Gliadin, a component of gluten, is
taken up in the small intestine and
altered by tissue transglutaminase.
The altered gliadin protein is
presented by MHC-II complexes on
enterocytes. TH1 Cells bind to the
MHC-II-gliadin complex and initiate
antibody production against gliadin,
which have cross-reactivity with
tissue transglutaminase and also
release pro-inflammatory cytokines.
Weight loss, pallor due to
anemia, steatorrhea,
dermatitis herpetiformis,
nutritional deficiencies
(iron, vitamins)
Diagnosis can be done
through HLA typing (HLADQ2 and DQ8), tissuetransglutaminase Ig
production, and duodenal
biopsy
Gluten free diet;
Dapsone can be used to treat
dermatitis herpetiformis
(However, there are issues with
methemoglobinemia so may
also be taken with cimetidine)
Lack of insulin means that the body
cannot use glucose as a source of
energy in cells or control the amount
of sugar in the blood. Untreated
DM1 leads to diabetic ketoacidosis.
Polyuria, polydipsia,
fatigue, blurred vision (can
progress to blindness),
peripheral neuropathy,
weight loss
Insulin (glargine and lispro),
healthy lifestyle, frequent
blood glucose monitoring