Wilson's disease

Wilson's disease is an autosomal recessive inherited disorder of copper met abolism resulting in pathological accumulation of copper in many organs and tissues. The Wilson disease gene is localized on human chromosome 13 and c odes for a copper transporting P-type ATPase, - ATP7B, About one hundred mu tations occurring throughout the whole gene have been documented so far: Th e most common is the His1069Gln point mutation. Wilson's disease may presen t under a variety; of clinical conditions, the most common being liver dise ase (ranging from. acute hepatitis, fulminant hepatic failure, chronic hepa titis, and cirrhosis), haemolytic anaemia, and neuropsychiatric ic disturba nces. The diagnosis of Wilson's disease is usually made on the basis of cli nical findings (Kayser-Fleischer rings, typical neurologic symptoms) and la boratory abnormalities (low serum caeruloplasmin, increased hepatic copper content). Molecular genetic testing is now the standard for testing asympto matic siblings. Diagnosis in patients presenting with liver diseases is dif ficult and requires a combination of various laboratory parameters. Lifelon g treatment with chelating agents (d-penicillamine, trientine) or,vith zinc is usually sufficient to stabilize the patient and to achieve clinical rem ission in most. Patients with advanced liver disease benefit from orthotopi c liver transplantation.