Medical faculty of the Heinrich-Heine-University of Düsseldorf, Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Düsseldorf, Germany.
Clin Res Hepatol Gastroenterol. 2012 Dec;36(6):536-53. doi: 10.1016/j.clinre.2012.06.006. Epub 2012 Jul 12.
The bile salt export pump (BSEP) is the major transporter for the secretion of bile acids from hepatocytes into bile in humans. Mutations of BSEP are associated with cholestatic liver diseases of varying severity including progressive familial intrahepatic cholestasis type 2 (PFIC-2), benign recurrent intrahepatic cholestasis type 2 (BRIC-2) and genetic polymorphisms are linked to intrahepatic cholestasis of pregnancy (ICP) and drug-induced liver injury (DILI). Detailed analysis of these diseases has considerably increased our knowledge about physiology and pathophysiology of bile secretion in humans. This review focuses on expression, localization, and function, short- and long-term regulation of BSEP as well as diseases association and treatment options for BSEP-associated diseases.
胆汁盐输出泵（BSEP）是人类肝细胞将胆汁酸分泌到胆汁中的主要转运体。BSEP 的突变与各种严重程度的胆汁淤积性肝病有关，包括进行性家族性肝内胆汁淤积症 2 型（PFIC-2）、良性复发性肝内胆汁淤积症 2 型（BRIC-2），遗传多态性与妊娠肝内胆汁淤积症（ICP）和药物性肝损伤（DILI）有关。对这些疾病的详细分析极大地增加了我们对人类胆汁分泌生理和病理生理学的认识。本综述重点介绍了 BSEP 的表达、定位和功能，以及短期和长期调节，以及与 BSEP 相关疾病的疾病关联和治疗选择。
