Abstract
Wilson's disease: a case and review of the litterature. Wilson disease is a relatively rare autosomal recessive inherited disorder of copper transport resulting from toxic copper accumulation in liver and brain. In patients with Wilson's disease, both copper incorporation into ceruloplasmin and excretion of this metal into bile are impaired. These conditions are caused by a genetic defect in the Wilson's disease gene (ATP7B), which maps to chromosome 13. The diagnosis is based on clinical findings, results of key laboratory tests such as low serum ceruloplasmin level, increased urinary copper excretion, and hepatic copper content and presence of Kayser-Fleischer rings. An emerging method to diagnosis is the use of molecular techniques. Several treatments are available to increase urinary excretion and decrease intestinal absorption of copper. We report a case of neurological Wilson's disease. Family survey found three siblings reached, without symptoms, who therefore hed preventive treatment.
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