肝脏疾病的基因检测：该检测什么、检测谁以及何时检测。

Genetic Testing in Liver Disease: What to Order, in Whom, and When.

机构信息

Transitions of Care, Division of Gastroenterology and Hepatology, Weill Cornell Medical College, Center for Liver Disease, 1305 York Avenue, 4th Floor, New York, NY 10021, USA.

出版信息

Clin Liver Dis. 2017 Nov;21(4):673-686. doi: 10.1016/j.cld.2017.06.001. Epub 2017 Jul 29.

DOI:10.1016/j.cld.2017.06.001

PMID:28987255

Abstract

Genetic causes of liver disease lead to a wide range of presentations, from mildly abnormal liver tests to acute liver failure. This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, lysosomal acid lipase deficiency, Gilbert syndrome, alpha-1 antitrypsin deficiency, and Wilson disease.

摘要

遗传性肝病的病因导致了广泛的临床表现，从轻微的肝功能异常到急性肝衰竭。本文讨论了遗传性血色素沉着症、进行性家族性肝内胆汁淤积症、良性复发性肝内胆汁淤积症、溶酶体酸性脂肪酶缺乏症、吉尔伯特综合征、α-1 抗胰蛋白酶缺乏症和威尔逊病的检测指征和检测内容。