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胆汗淤积症的遗传决定因素。

Genetic determinants of cholestasis.

机构信息

NIHR Biomedical Research Unit and Centre for Liver Research, Institute of Biomedical Research, The Medical School, University of Birmingham, Wolfson Drive, Birmingham B15 2TT, UK.

出版信息

Clin Liver Dis. 2013 May;17(2):147-59. doi: 10.1016/j.cld.2012.12.002.

Abstract

Cholestasis is an overarching term applied for conditions whereby biliary constituents are found in the circulation because of impairment to bile flow. A variety of processes can lead to cholestasis, be they acute or chronic injuries to hepatocytes, cholangiocytes, or the broader biliary tree itself. Such injuries may be driven by rare but highly informative primary genetic abnormalities, or may be seen in individuals with a prior genetic predisposition when confronted by specific environmental challenges such as drug exposure. This review provides a broad outline of some fundamental primary genetic cholestatic syndromes and an update on varying genetic predisposition underlying several acquired cholestatic processes.

摘要

胆汁淤积是一个总括性术语,用于描述由于胆汁流动受损而导致胆汁成分出现在循环中的情况。多种过程都可能导致胆汁淤积,无论是肝细胞、胆管细胞还是更广泛的胆管本身的急性或慢性损伤。这些损伤可能是由罕见但高度信息丰富的原发性遗传异常引起的,也可能发生在具有先前遗传易感性的个体中,当面临特定的环境挑战(如药物暴露)时。本综述提供了一些基本原发性遗传胆汁淤积综合征的广泛概述,并更新了几种获得性胆汁淤积过程背后的不同遗传易感性。

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