Wilson Disease MCQ Quiz | Hepatology & Biliary

1. Wilson disease is an autosomal recessive disorder caused by a mutation in which of the following genes?

2. The primary pathophysiological defect in Wilson disease leads to impaired:

3. Kayser-Fleischer rings, a hallmark sign of Wilson disease, are due to copper deposition in which layer of the cornea?

4. Which of the following is the MOST common initial clinical presentation of Wilson disease in children and adolescents?

5. A classic laboratory finding in Wilson disease is:

6. Which is considered the gold standard for the diagnosis of Wilson disease?

7. The mechanism of action of zinc salts in the treatment of Wilson disease is:

8. A patient with fulminant Wilsonian hepatitis typically presents with hemolytic anemia. What is the expected result of a Coombs test?

9. Which of the following is a potential serious side effect of D-penicillamine therapy, often leading to its discontinuation?

10. The “face of the giant panda” sign is a characteristic finding in Wilson disease seen on which imaging modality?

11. A low ratio of alkaline phosphatase to total bilirubin (<4) is highly suggestive of which presentation of Wilson disease?

12. Once a patient is diagnosed with Wilson disease, what is the recommendation for their first-degree relatives?

13. Which of the following chelating agents is generally preferred over D-penicillamine due to a more favorable side-effect profile?

14. The typical age of onset for clinical manifestations of Wilson disease is:

15. The definitive treatment for patients with Wilson disease who present with fulminant hepatic failure or decompensated cirrhosis refractory to medical therapy is:

16. Which of the following foods is NOT considered high in copper and would be recommended for a patient with Wilson disease?

17. In a patient with neurologic Wilson disease, Kayser-Fleischer rings are present in what percentage of cases?

18. The ATP7B gene product is what type of protein?

19. Which of these neurological symptoms is a common feature of Wilson disease?

20. Serum ceruloplasmin levels can be normal or even elevated in some patients with Wilson disease, particularly in the setting of:

21. The prognosis for patients with Wilson disease who are diagnosed and treated before significant organ damage occurs is generally:

22. The penicillamine challenge test involves measuring 24-hour urinary copper excretion after administering a dose of D-penicillamine. A positive test suggestive of Wilson disease is:

23. In Wilson disease, copper accumulates preferentially in which zone of the hepatic acinus?

24. What is the status of total serum copper in most patients with Wilson disease?

25. Non-ceruloplasmin-bound (“free”) serum copper in Wilson disease is typically: