Genetics of Wilson's disease: A clinical perspective

被引：6
作者：
Kumar S.S. [1 ]
Kurian G. [2 ]
Eapen C.E. [1 ]
Roberts E.A. [3 ]
机构：
[1] Department of Hepatology, Christian Medical College, Vellore
[2] Department of Gastroenterology and Hepatology, Pondicherry Institute of Medical Sciences, Pondicherry
[3] Departments of Pediatrics, Medicine and Pharmacology, University of Toronto, Toronto
来源：
Indian Journal of Gastroenterology | 2012年 / 31卷 / 6期
关键词：
ATP7B; Clinical utility; Genetic diagnosis; Wilson's disease;
D O I：
10.1007/s12664-012-0237-6
中图分类号：
学科分类号：
摘要：
Hepatic Wilson's disease is often a difficult diagnosis to confirm. This review examines the current role of genetic tests for Wilson's disease and is aimed at clinicians caring for patients with this disease. We discuss how genetic testing is carried out for Wilson's disease, indications for these tests, and genetic counseling for the family. In contrast to the advances in diagnosis of Wilson's disease by testing for ATP7B mutations, genotype-phenotype correlations are not yet sufficiently established. The non-Wilsonian copper overload syndromes causing cirrhosis in children are another important area for study. The review also identifies further areas for research into the genetics of Wilson's disease in India. © 2012 Indian Society of Gastroenterology.
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收藏
页码：285 / 293
页数：8
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