Tulane (Block Exam) Flashcards
Familial adenomatous polyposis gene and locus
APC; 5q21
Juvenile polyposis gene(s) and locus
SMAD4, BMPR1, ENG; 18q21.1
Wilson’s disease mutation
ATP7B
Inflammatory Hepatocellular Adenoma mutation
Activating mutation in gp130 (encodes IL-6 coreceptor…)
beta-Catenin Hepatocellular Adenoma gene
CTNNB1
“CaTeNiN Beta-1”
Laboratory signs of cirrhosis
Incr. bilirubin
Decr. albumin
Thrombocytopenia (and prolonged INR)
Incr. ferritin
Hereditary hemochromatosis genetics
HFE on chromosome 6p (C282Y mutation most common)
Describe conditions necessary for Campylobacter jejuni growth
Fastidious: 42 degrees C, microaerophilic environment (blood or charcoal to reduce oxygen)
Plummer-Vinson syndrome symptoms
Esophageal webs, iron deficiency anemia, dysphagia, beefy red tongue (d/t atrophic glossitis)
Dubin-Johnson syndrome gene
MRP2
Progressive Familial Intrahepatic Cholestasis gene
ATP8B1
Number 1 drug-related cause of cholestasis
Ampicillin/Augmentin (all abx common cause)
Cholestatic pattern of LFTs
Alk phos 4-5x greater than AST, ALT (but all elevated)
Conditions associated with congenital biliary atresia
Congenital heart disease, polysplenia, bowel malrotation
Behcet’s syndrome symptoms
Aphthous and genital ulcers, uveitis