Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient

被引：0

作者：

Kok, K. F. ^{[1
]}

Hoevenaars, B. ^{[2
]}

Waanders, E. ^{[1
]}

Drenth, J. P. H. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Med, Div Gastroenterol & Hepatol, Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, Netherlands

来源：

NETHERLANDS JOURNAL OF MEDICINE | 2008年 / 66卷 / 08期

关键词：

Copper; hepatitis; mutation analysis; Wilson's disease;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Wilson's disease (WD) is a disorder of copper metabolism leading to copper accumulation in the liver and in extrahepatic organs, such as brain and cornea. We present a patient with liver disease who did not fulfil the biochemical criteria for WD. Mutational analysis was necessary to make the diagnosis and show a new mutation. Our case supports the use of mutation analysis in cases with unclear liver disease and suggests that the spectrum of WD is broader than currently assumed.

引用

页码：348 / 350

页数：3

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