A 19-year-old college student presents with progressive tremor, mood changes, and jaundice over 3 months. Vital signs: BP 118/76, HR 88, RR 16, Temp 37°C, SpO2 98%. Slit lamp examination reveals Kayser-Fleischer rings at the corneal periphery. Laboratory studies show serum ceruloplasmin 15 mg/dL (normal 20-40), elevated transaminases, and INR 1.8. He denies prior hepatitis or alcohol use. Which of the following is the most likely diagnosis?
- A)Hemochromatosis
- B)Gilbert syndrome
- C)Primary biliary cholangitis
- D)Alpha-1 antitrypsin deficiency
- E)Wilson diseaseGABARITO
Explicação
Wilson disease is an autosomal recessive disorder of copper excretion caused by ATP7B mutation leading to copper accumulation in liver, brain, and cornea with Kayser-Fleischer rings. Ver explicação completa e trilha adaptativa →