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Pathology All India exam 5cc5a9a7

The major clinical manifestation of Wilson disease in children 8-16 years of age is

A
Hepatic dysfunction
B
Cardiac failure
C
Thromboembolic event
D
Blindness
High-Yield Explanation
Hepatic dysfunction Wilson's disease or hepatolenticular degeneration is an autosomal recessive disease in which copper accumulates in tissues this manifests as neurological or psychiatric symptoms and liver disease. The condition is due to mutation in the Wilson disease protein (ATP7B) gene Hepatic manifestation occur in 50% of patient mean age of onset of hepatic manifestation is 11.4year.

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