Wilson's disease

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• 作者：Aftab Ala
• 关键词：caeruloplasmin ; copper ; hepatotoxicity ; Kayser&ndash ; Fleischer rings ; liver failure ; penicillamine ; tremor ; trientine ; Wilson's disease ; zinc
• 刊名：Medicine
• 出版年：2015
• 出版时间：November 2015
• 年：2015
• 卷：43
• 期：11
• 页码：661-663
• 全文大小：102 K

文摘

Wilson's disease, is a rare progressive genetic disorder of copper metabolism associated with hepatolenticular degeneration. Left untreated, it invariably results in severe disability and death. The diagnosis is very easily overlooked but if discovered early, effective treatments are available that will prevent or reverse many manifestations of this disorder. The role of copper in disease pathogenesis, coupled with clinical, biochemical, and genetic markers, are pivotal to establishing a clear diagnosis. Medical therapy involves several chelating agents (e.g. penicillamine, trientine) and zinc salts. Liver transplantation corrects the underlying pathophysiology and can be lifesaving. Knowledge of the Wilson's disease gene has opened up a new molecular diagnostic repertoire in the investigation of a suspected patient and first-degree relatives.