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Questions and Answers
What is the main cause of Wilson disease?
What is the main cause of Wilson disease?
- Elevated 24-hour urine copper excretion
- Presence of Kayser-Fleischer rings in the iris
- Mutations in the ATP7B gene (correct)
- Depressed serum levels of ceruloplasmin
Which symptom may rarely occur before the age of 3 in Wilson disease?
Which symptom may rarely occur before the age of 3 in Wilson disease?
- Anemia (correct)
- Tremor
- Neurologic abnormalities
- Hepatic presentations
What is the function of the encoded protein of the ATP7B gene?
What is the function of the encoded protein of the ATP7B gene?
- Neurotransmitter regulation
- ATP-driven copper pump (correct)
- Hemoglobin production
- Ceruloplasmin synthesis
Which of the following is a characteristic of Wilson disease?
Which of the following is a characteristic of Wilson disease?
What is a potential hepatic presentation of Wilson disease?
What is a potential hepatic presentation of Wilson disease?