A 16-year-old boy presents with progressive tremor, dysarthria, and declining school performance over 6 months. Vital signs show BP 118/76, HR 88, RR 16, Temp 37.2°C, SpO2 98% on room air. Examination reveals jaundice, splenomegaly, and characteristic brown-green Kayser-Fleischer rings at the corneal margins. Laboratory studies demonstrate elevated transaminases (AST 156 U/L, ALT 142 U/L), low serum ceruloplasmin (14 mg/dL), and elevated 24-hour urinary copper. No asterixis is noted. Mutation of which protein is most likely responsible?
- A)Microsomal triglyceride transfer protein
- B)ATP dependent copper transport protein in hepatocytesGABARITO
- C)Iron regulatory protein in enterocytes
- D)Copper dependent extracellular collagen cross linking enzyme
- E)Bile salt export pump
Explicação
Wilson disease is caused by mutation of the ATP7B copper transport protein, impairing incorporation of copper into ceruloplasmin and reducing biliary copper excretion. Copper then accumulates in the liver, brain, and cornea, producing hepatitis, neuropsychiatr... Ver explicação completa e trilha adaptativa →