Diagnosis and treatment of Wilson's disease

被引:39
|
作者
Brewer, GJ
Fink, JK
Hedera, P
机构
[1] Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA
[2] Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA
[3] Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
[4] Ann Arbor Vet Affairs Med Ctr, Geriatr Res Educ & Clin Ctr, Ann Arbor, MI USA
关键词
Wilson's disease; neurological disease; liver disease; ATP7B; copper;
D O I
10.1055/s-2008-1040842
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Wilson's disease is due to an inherited defect in copper excretion into the bile by the liver. The resulting copper accumulation and copper toxicity results in liver disease, and in some patients, brain damage. Patients present, generally between the ages of 10 and 40 years, with liver disease, neurological disease of a movement disorder type, or behavioral abnormalities, and often with a combination of these. Because Wilson's disease is effectively treated, it is extremely important for physicians to learn to recognize and diagnose the disease. Treatment options have evolved rapidly in the last few years, with zinc now being the drug of choice in most situations.
引用
收藏
页码:261 / 270
页数:10
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