Wilson's disease overview: Difference between revisions
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==Overview== | ==Overview== | ||
'''Wilson's disease''' or '''hepatolenticular degeneration''' is an [[autosomal recessive]] [[genetic disorder]] in which [[copper]]accumulates in [[biological tissue|tissues]]; this manifests as [[neurology|neurological]] or [[psychiatry|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 transplantation|liver transplant]] is required. | '''Wilson's disease''' or '''hepatolenticular degeneration''' is an [[autosomal recessive]] [[genetic disorder]] in which [[copper]] accumulates in [[biological tissue|tissues]]; this manifests as [[neurology|neurological]] or [[psychiatry|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 transplantation|liver transplant]] is required. | ||
The condition is due to [[mutation]]s 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 [[Genetic carrier|carrier]]s). 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. | The condition is due to [[mutation]]s 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 [[Genetic carrier|carrier]]s). 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. | ||
Revision as of 16:40, 24 August 2012
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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.