遗传性肝病之“百变面孔”

库尔班江·阿布都西库尔; 王建设

doi:10.3969/j.issn.1001-5256.2019.08.001

遗传性肝病之“百变面孔”

DOI: 10.3969/j.issn.1001-5256.2019.08.001

复旦大学附属儿科医院肝病科

详细信息

中图分类号: R575
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出版历程
- 收稿日期: 2019-07-03
- 出版日期: 2019-08-20

Myriad faces of genetic liver disorders

Department of Hepatology, Children's Hospital of Fudan University

摘要

摘要:
随着生活水平和病毒性肝炎防治水平的提高,以及基因诊断技术的普及,遗传性肝病越来越受到重视。遗传性肝病表现形式多样,可以是单独肝脏、肝内外胆管及血管异常,亦可同时伴有人体其他器官系统受累,可谓具有"百变面孔"。通过关注遗传性肝病的不同表现形式,以帮助肝病科医生明确肝病病因及致病基因。
- 遗传性肝病 /
- 基因 /
- 表型 /
- 诊断
Abstract:
With the improvement in quality of life and the level of prevention and treatment of viral hepatitis, as well as the availability of genetic testing, genetic liver disorders have been taken more and more seriously. Genetic liver disorders have various clinical manifestations, such as abnormalities in the liver and intrahepatic or extrahepatic blood vessels/bile ducts, and it can also involve other organs and systems in the human body. These are the myriad faces of genetic liver disorders. This article focuses on different manifestations of genetic liver disorders, in order to help physicians identify the etiology and pathogenic gene of liver disease.
- genetic liver diseases /
- genes /
- phenotype /
- diagnosis

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