GI Flashcards
Which has higher risk of congenital defects: duodenal atresia v. Jejunal atresia?
Duodenal atresia (think of association with trisomy 21)
Intussussception age of presentation:
2 months to 5 years (peak between 4-10 months)
Signs of Vitamin C deficiency:
(Ascorbic Acid) Follicular hyperkeratosis, gingival bleeding, normocytic anemia, poor wound healing, brittle bones
excess: oxalate and cysteine stones
Lab manifestations of rickets:
Low calcium, Low phosphorous, High alk phos, high PTH and low vitD (Vit D def) vs nl vitamin D with Vit d resistant
delayed fontanelle closing, frontal bossing, widened physes of wrists and ankles, leg bowing, rachitic rosary
Manifestations of vitamin E deficiency:
(Tocopherol) Neurological dysfunction, loss of reflexes, (hemolytic anemia in preterm infants), peripheral edema, thrombocytosis
excess: liver toxicity
Copper deficiency manifestations:
In preterm infants or XL recessive (Menkes) -> neutropenia, hypo chromic anemia, mimics metabolic bone disease
Most common pills that cause pill induced esophagitis:
Doxycycline, aspirin, NSAIDs, slow release potassium
B vitamins and manifestations:
B1 (Thiamin): beri beri-paresthesias, foot drop. Wernicke encephelopathy-opthalmoplegia, ataxia, HF, long QT (gastric bypass) (dx: transketolase activation test)
B2 (Riboflavin): cheilosis, sore tongue, photophobia. *Premies on prolonged phototx at risk
B3 (Niacin): pellagra - dermatitis, diarrhea and dementia
B5 (Pantothenic Acid)
B6 (Pyridoxine): FTT, oxaluria, b6 dep sz, neuropathy (on INH)
B9 (Folate): macrocytic anemia (goats milk)
B12 (Cyanocobalamin): megaloblstic anemia (pernicious anemia, vegan)
Biotin
What usually causes Menetrier disease?
CMV infection-> swollen, redundant gastric folds->PLE
H. Pylori treatment:
PPI + clarithromycin + amox/flagyl x 2 weeks
What syndrome is Zollinger Ellison associated with?
ZE is a gastronoma and 25% will have MEN 1 (hyperparathyroidism, adrenal tumors)
What is Hartnup disease?
Congenital defect of free neutral amino acid transport -> pellagra like sx
What is Lowe syndrome?
Defect of arginine and lysine transport -> MR, cataracts, hypotonia, vitamin D resistant rickets
When does zinc deficiency present?
Autosomal recessive, presents after weaning from breast milk (bm has missing zinc binding factor)
What organism causes Whipple disease?
Tropheryma whippelii (gram positive actinomycetes) -> diarrhea, fever, serositis, CNS symptoms
What is typhilitis?
Inflammation of cecum seen in neutropenics, immunodeficient. Can progress to gangrene, perforation.
What is the inheritance pattern of Peutz-Jeghers syndrome?
Autosomal dominant, variable penetrance
What is Caroli disease?
Congenital dilation of larger segmental intra-hepatic bile ducts -> present in adolescence with recurrent cholangitis and abscesses
What is Alagille syndrome?
AD with paucity of small intrahepatic ducts. Associated with: peripheral pulmonary a stenosis, butterfly vertebrae, posterior embryotoxon, abn radius/ulna
Who is hepatitis E bad for?
High risk of fulminant hepatitis in third trimester of pregnancy.
Lab findings in Wilson disease:
Low ceruloplasmin
Elevated 24 hr urinary copper (even more elevated after penicillamine)
Increased copper on liver biopsy
How does PFIC1 present?
Progressive familial intrahepatic cholestasis 1-> conjugated hyperbili, pruritis, diarrhea, fat malabsorption with KADE deficiencies. Later cirrhosis
What liver findings are oral contraceptives associated with?
Hepatic vein thrombosis (budd chiari) and liver adenomas
Diagnosis of autoimmune hepatitis:
Type I: ANA + anti-smooth muscle
Type II: antiLKM1
Type III: anti-SLA
+ elevated LFTs and hypergammaglobulinemia
