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Disorders

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Disorder & Pathophysiology
Organs affected
Bulimia (eating disorder
characterized by person
bingeing on food)
Signs & Symptoms
Goes to bathroom after
meal, exercise often, use
laxatives or diuretics, binge
eat, purge
Maple syrup urine disease
(body is not able to break
down amino acids (protein)
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Nervous system
Respiratory system
Urinary system
Menke’s disease (rare Xchromosome disorder which
affects copper metabolism.)
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Nervous system
Integumentary system
Musculoskeletal system
Urinary system
Cardiovascular
Anorexia (psychological
eating disorder
characterized by not eating)
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Affects all body system
and organs
Kwashiorkor and Marasmus
(protein energy
malnutrition. Kwashiorkor
low protein with enough
calorie intake, Marasmus
low protein and calorie
intake)
Kwashiorkor:
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Lymphatic system
Marasmus:
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Musculoskeletal system
Niemann-Pick disease type
C (inability to metabolized
fats which accumulates in
various tissues)
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Liver
Spleen
Brain
Bone marrow
Appendicitis (inflammation
of the appendix due to
obstruction or fluid build-up)
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Immune system
Digestive system
Abdominal cavity
Celiac disease (intolerance
to gluten due to damage to
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Digestive system
Immune system
Integumentary system
Difficulty feeding, lethargy,
seizures, areflexia
(decreased reflex),
intermittent hypertonicity,
respiratory problem
Pili torti (kinky hair), failure
to gain weight, deterioration
of nervous system, weak
muscle tone, seizure
Extreme weight loss, dry
yellow skin, fatigue,
abdominal pain,
constipation hair loss,
amenorrhea (due to lack of
nutrients), depression
Kwashiorkor: pitting edema
on lower extremities,
distended edema, enlarged
liver, thin hair, teeth loss,
dermatitis
Marasmus: severe muscle
wasting, loss of
subcutaneous fat, wrinkled
skin, hair loss, low energy,
stunted growth, dry skin
Jaundice/cholestasis
(decrease bile) in children,
ataxia, vertical gaze palsy,
enlarged liver and spleen,
interstitial lung disease,
problem with speech and
swallowing, progressive
decrease of intellectual
function
Severe RLQ pain, mild fever,
inability to pass gas, loss of
appetite, N&V, constipation,
diarrhea
Abdominal bloating, chronic
diarrhea, constipation, gas,
Diagnostic Tests &
Treatment
Physical exam, CBC,
electrocardiogram,
psychological evaluation, Xrays. Psychotherapy,
antidepressants, nutrition
and education
Spectrometry, newborn
screening test. Stop protein
intake, increase calorie
intake, monitor BCAA level
every 12 hours,
Serum copper level,
fibroblast cell culture, light
microscopy of hair,
electroencephalograms. No
specific treatment, copper
chloride IV, viral gene
therapy, vitamin C and R,
penicillin
Physical exam, CBC,
comprehensive metabolic
panel, psychological
evaluation, X-rays,
electrocardiogram.
Refeeding slowly,
psychological therapy
(family based),
hospitalization (severe)
Physical examination,
arterial blood gas, BUN,
blood level of creatinine and
potassium, urinalysis. Slow
refeeding to avoid refeeding
syndrome, balanced diet,
antibiotics, rehydration
solution of malnutrition
Genetic testing. No
treatment because it’s
genetic, supportive care,
medication
CBC, rebound tenderness,
CT scan, MRI, ultrasound,
PSOAS test. Appendectomy
(surgery), antibiotic therapy,
drain abscesses in appendix
Blood test, intestinal biopsy,
skin biopsy, genetic test.
Gluten free diet
inner lining of small
intestine)
Ulcers (sore/break in the
lining of GI tract mucosa.
Commonly caused by H.
pylori or long term use of
aspirin or NSAIDs)
Colitis (inflammation of the
large intestine or colon)
Diverticulosis (small, bulging
pouches develop in smooth
muscle of intestinal wall)
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Digestive system
Immune system
Urinary system
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Digestive system
Rectum and colon
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Large intestine
especially sigmoid
colon
Chron’s disease (chronic
inflammation of the GI tractileum and beginning of
colon)
fatty stool, stomach pain,
N&V, weight loss, anemia
Burning/ cramp like
sensation, back pain,
bloating, N&V, black stool
Diarrhea, bloody stool,
rectal pain or bleeding,
increase urge to defecate,
abdominal pain,
dehydration, chills and
fever, fatigue, weight loss
No symptoms, unexplained
painful cramps on LLQ
Frequent reoccurring
diarrhea, abdominal
cramping, reduced appetite,
melena (dark stool), weight
loss, fever
Weight loss, constipation,
diarrhea, blood in stool,
bloating, cramps, jaundice,
pain in abdomen
Colorectal cancer (growth of
abnormal cells in the colon
or rectum)
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Colon
Rectum
Hepatitis (inflammation of
the liver)
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Liver
Thyroid gland
Blood circulation
Digestive system
Nervous system
Integumentary system
Fatigue, jaundice, loss of
appetite, N&V, dark-colored
urine, gray colored stool,
pruritus
Mumps (inflammation of the
parotid glands)
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Salivary glands
Testicles
Ovaries
Inner ear
CNS
Painful and swollen salivary
glands, testes or ovaries,
headache, moderate fever,
muscle aches, fatigue, loss
of appetite
Endoscopy, CBC, urinalysis,
liver enzymes, urea breath
test. Nutrition therapy,
medication (PPIs, antibiotics)
CBC, CT scan, MRI,
sigmoidoscopy,
colonoscopy. Drug therapy
(anti-inflammatory drugs,
antibiotics),
proctocolectomy (surgery)
CT scan with oral contrast,
CBC, urinalysis, FOBT,
barium enema, colonoscopy.
Change in diet, increase
water intake, bulk laxatives
CT-scan, X-rays, MRI,
endoscopy, blood test.
Antibiotics, aminosalicylates,
corticosteroids, immune
modifiers
CBC, blood chemistry tests,
stool test. Surgery,
chemoradiation, radiation
therapy, immunotherapy,
target therapy drugs
Physical exam, blood test,
transient elastography, liver
biopsy. No specific
treatment for acute,
antiviral medications,
healthy balanced diet, avoid
alcohol, liver transplant
PCR test, serology test.
Respiratory isolation,
analgesics & antipyretics,
consumption of fluid,
vaccines (prevention)
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