Wilson's disease: Molecular basis, clinical manifestations, and rational treatment

Wilson's disease is a hereditary disorder of copper metabolism which mainly affects the liver and the central nervous system, but also other organs. It is caused by an impairment of biliary copper excretion and subsequent accumulation of copper in the organism. Mutations in one single gene on chromosome 13 have been identified as the cause of impaired copper excretion. The product of the "Wiison's disease gene" is a copper transporting membrane protein. Patients develop symptoms of the disease mainly between the ages of 5 and 30 years. They may present with fulminant hepatic failure and hemolysis or with signs or symptoms of chronic hepatopathy or movement disorders. The diagnosis is made by clinical, biochemical and histological examinations. The prognosis is good when the diagnosis is made at time and when adequate long-term medical treatment is administered. Wilson's disease, however, is fatal when untreated. liver transplantation is indicated in patients with fulminant hepatic failure or end stage chronic liver disease.