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首页> 外文期刊>Best practice & research:Clinical gastroenterology >Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
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Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.

机译：家族性胆汁淤积：进行性家族性肝内胆汁淤积，良性复发性肝内胆汁淤积和妊娠肝内胆汁淤积。

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摘要

Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1, ABCB11 and ABCB4, respectively. Each of these genes encodes a hepatocanalicular transporter, which is essential for the proper formation of bile. Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis, referred to as benign recurrent intrahepatic cholestasis (BRIC) type 1 and 2, as well as in progressive cholestatic disease. This suggests a clinical continuum and these diseases are therefore preferably referred to as ATP8B1 deficiency and ABCB11 deficiency. Similarly PFIC type 3 is designated as ABCB4 deficiency. Heterozygous mutations in each of these transporters can also be associated with intrahepatic cholestasis of pregnancy. This review summarizes the pathophysiology, clinical features and current as well as future therapeutic options for progressive familial- and benign recurrent intrahepatic cholestasis as well as intrahepatic cholestasis of pregnancy.
机译：进行性家族性肝内胆汁淤积症（PFIC）1、2和3类型分别是由于ATP8B1，ABCB11和ABCB4中的突变引起的。这些基因中的每一个均编码肝胆碱转运蛋白，这对于正确形成胆汁至关重要。 ABCB4中的突变可导致进行性胆汁淤积性疾病，而ATP8B1和ABCB11中的突变可导致偶发性胆汁淤积症，称为1型和2型良性复发性肝内胆汁淤积症，以及进展性胆汁淤积性疾病。这暗示了临床连续性，因此这些疾病优选地被称为ATP8B1缺乏症和ABCB11缺乏症。同样，PFIC类型3被指定为ABCB4缺乏症。这些转运蛋白各自的杂合突变也可能与妊娠肝内胆汁淤积有关。这篇综述总结了进行性家族性和良性复发性肝内胆汁淤积以及妊娠肝内胆汁淤积的病理生理学，临床特征以及当前以及未来的治疗选择。

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