Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring

被引：49

作者：

Gaffney, D ^{[1
]}

Fell, GS ^{[1
]}

O'Reilly, DS ^{[1
]}

机构：

[1] Glasgow Royal Infirm, Dept Biochem, Glasgow G4 0SF, Lanark, Scotland

来源：

JOURNAL OF CLINICAL PATHOLOGY | 2000年 / 53卷 / 11期

关键词：

Wilson's disease; copper; diagnosis;

D O I：

10.1136/jcp.53.11.807

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Wilson's disease, the most common inherited disorder of copper metabolism, is a recessive genetic condition. The clinical presentation of Wilson's disease is very variable. It is characterised by low serum copper and caeruloplasmin concentrations coupled with the pathological accumulation of copper in the tissues. However, there are diagnostic difficulties and these are discussed. The current value of DNA diagnosis, both in gene tracking in families or as applied to de novo cases, is examined. Wilson's disease can be treated successfully but treatment must be life long. Patients are best treated by specialist centres with experience and expertise in the condition.

引用

页码：807 / 812

页数：6

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