Wilson Disease

Abstract

Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism. The basic defect in WD is the impaired biliary excretion of copper resulting in the accumulation of copper in various organs including the liver, the cornea and the brain. WD may present under a variety of clinical conditions, the most common ones being liver disease and neuropsychiatric disturbances. The WD gene is localized on chromosome 13 and codes for a copper transporting P-type ATPase—ATP7B. More than 800 mutations of ATP7B have been reported. The diagnosis of WD can be made, if two of the three symptoms are present: Kayser-Fleischer rings, typical neurologic symptoms and low serum ceruloplasmin levels. Otherwise a combination of various laboratory parameters is necessary to establish the diagnosis (Leipzig score≥4). Lifelong medical treatment allows an almost normal survival and symptomatic improvement in a substantial number of patients. Drugs either chelate copper and lead to increased urinary excretion (d-penicillamine, trientine, tetrathiomolybdate) or inhibit copper absorption in the gut (zinc).