Wilson's disease overview: Difference between revisions
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Revision as of 15:55, 12 July 2017
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Wilson's disease Microchapters |
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Diagnosis |
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Treatment |
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Wilson's disease overview On the Web |
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American Roentgen Ray Society Images of Wilson's disease overview |
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Risk calculators and risk factors for Wilson's disease overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.
The condition is due to mutations in the Wilson disease protein (ATP7B) gene. A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms (they are carriers). If a child inherits the gene from both parents, they may develop Wilson's disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older patients have been described. Wilson's disease occurs in 1 to 4 per 100,000 people.