Pathogenesis and management of W ilson disease

Hepatolenticular degeneration, commonly known as W ilson disease, is an autosomal recessive inherited disease of abnormal copper metabolism, characterized by the accumulation of copper in the body due to decreased biliary excretion of copper from hepatocytes. W ilson disease protein, ATP7B , functions in copper excretion into bile and in copper secretion to the bloodstream coupled with ceruloplasmin synthesis. Various kinds of mutations of ATP7B cause W ilson disease. W ilson disease is a rare genetic disease that can be treated pharmacologically. Recognition and prompt diagnosis are very important, because W ilson disease is fatal if left untreated. In this review, I summarize the pathogenesis and management of W ilson disease.