Wilson’s disease

Abstract

Wilson s disease (WD) is a genetically determined, autosomal recessive disorder of copper metabolism. The gene ATP7B encodes a copper carrier that both transports copper from hepatocyte to bile and ceruloplasmin copper incorporation. WD may present with almost any variety of liver disease at an age ranging from 4–12 years, or with neurological and psychiatric symptoms in adolescence. Less commonly, haemolysis and/or fulminant hepatic failure may be an initial presentation. Low plasma ceruloplasmin, a positive penicillamine challenge test, and a high hepatic copper content suggest the diagnosis. Molecular methods help in diagnosing WD. If diagnosed early, it is treatable with chelators and/or zinc, and has a good prognosis. Fulminant hepatic disease has a poor outcome without transplantation.