Kumar S Suresh, Kurian George, Eapen C E, Roberts Eve A
Department of Hepatology, Christian Medical College, Vellore 632 004, Tamil Nadu, India.
Indian J Gastroenterol. 2012 Dec;31(6):285-93. doi: 10.1007/s12664-012-0237-6. Epub 2012 Sep 1.
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.
肝豆状核变性往往难以确诊。本综述探讨了基因检测在肝豆状核变性诊断中的当前作用，旨在为诊治此类疾病患者的临床医生提供参考。我们讨论了肝豆状核变性基因检测的方法、检测指征以及对患者家庭的遗传咨询。与通过检测ATP7B突变诊断肝豆状核变性的进展相比，基因型与表型的相关性尚未充分确立。导致儿童肝硬化的非肝豆状核变性铜过载综合征是另一个重要的研究领域。该综述还确定了印度肝豆状核变性遗传学的其他研究方向。
