Wilson's disease.
Wilson's disease is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues. The Wilson disease gene is localized on human chromosome 13 and codes for a copper transporting P-type ATPase, -ATP7B. About one hundred mutations occurring throughout the whole gene have been documented so far. The most common is the His1069Gln point mutation. Wilson's disease may present under a variety of clinical conditions, the most common being liver disease (ranging from acute hepatitis, fulminant hepatic failure, chronic hepatitis, and cirrhosis), haemolytic anaemia, and neuropsychiatric disturbances. The diagnosis of Wilson's disease is usually made on the basis of clinical findings (Kayser-Fleischer rings, typical neurologic symptoms) and laboratory abnormalities (low serum caeruloplasmin, increased hepatic copper content). Molecular genetic testing is now the standard for testing asymptomatic siblings. Diagnosis in patients presenting with liver diseases is difficult and requires a combination of various laboratory parameters. Lifelong treatment with chelating agents (d-penicillamine, trientine) or with zinc is usually sufficient to stabilize the patient and to achieve clinical remission in most. Patients with advanced liver disease benefit from orthotopic liver transplantation.
Ferenci
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Dept. Internal Medicine IV, Gastroenterology and Hepatology, University of Vienna, Wien, Austria.
D004252:DNA Mutational Analysis; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000235:genetics / Q000378:metabolism / Q000523:psychology / Q000628:therapy; D006801:Humans; D008099:Liver / Q000378:metabolism