Wendum Dominique
Hôpital Saint-Antoine, AP-HP, Paris, France.
Ann Pathol. 2010 Dec;30(6):426-31. doi: 10.1016/j.annpat.2010.08.025. Epub 2010 Nov 11.
The identification of biliary tranporters has enhanced our understanding of bile formation and some liver diseases. In this review, we first describe the main hepatobiliary transporters and their function. Then, some liver diseases related to mutations of biliary tranporters (FIC1/ATP8B1, BSEP/ABCB11, MDR3 /ABCB4 and MRP2/ABCC2) will be described with a focus on the pathological aspects. These diseases include progressive familial intrahepatic cholestasis (PFIC), benign recurrent intrahepatic cholestasis (BRIC), intrahepatic cholestasis of pregnancy, Dubin-Johnson's syndrome and low phospholipid associated cholelithiasis (LPAC).
胆汁转运体的鉴定增进了我们对胆汁形成及某些肝脏疾病的理解。在本综述中，我们首先描述主要的肝胆转运体及其功能。然后，将描述一些与胆汁转运体（FIC1/ATP8B1、BSEP/ABCB11、MDR3 /ABCB4和MRP2/ABCC2）突变相关的肝脏疾病，重点关注其病理方面。这些疾病包括进行性家族性肝内胆汁淤积症（PFIC）、良性复发性肝内胆汁淤积症（BRIC）、妊娠期肝内胆汁淤积症、杜宾-约翰逊综合征和低磷脂相关胆石症（LPAC）。
