Genetic Determinants of Cholestasis
Genetic Determinants of Cholestasis
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DOI：
10.1016/j.cld.2012.12.002
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发表时间：
2013-05-01
影响因子：
5.1
通讯作者：
Hirschfield, Gideon M.
中科院分区：
文献类型：
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作者：
Hirschfield, Gideon M.
胆汁淤积的遗传决定因素 Gideon M. Hirschfield 胆汁淤积是一个总体术语，适用于因胆汁流动受损而在循环中发现胆汁成分的病症。多种过程都可能导致胆汁淤积，无论是肝细胞、胆管细胞或更广泛的胆管系统本身的急性或慢性损伤。这种损伤可能是由罕见但信息丰富的原发性遗传异常引起的，或者可能在具有先前遗传倾向的个体面临特定的环境挑战（例如药物暴露）时出现。这篇综述概述了一些基本的原发性遗传性胆汁淤积综合征，并对几种获得性胆汁淤积过程背后的不同遗传倾向进行了更新。
Genetic Determinants of Cholestasis Gideon M. Hirschfield 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.