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首页> 外文期刊>Current treatment options in gastroenterology >The Multiple Facets of ABCB4 (MDR3) Deficiency.
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The Multiple Facets of ABCB4 (MDR3) Deficiency.

机译：ABCB4（MDR3）缺陷的多个方面。

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ABCB4 (MDR3), a lipid translocator, moves phosphatidylcholine from the inner to the outer leaflet of the canalicular membrane. Genetic mutations of ABCB4 lead to three distinct but related hepatobiliary diseases. Progressive familial intrahepatic cholestasis (PFIC) type 3 is a chronic cholestatic syndrome characterized by a markedly elevated gamma-glutamyltranspeptidase. Patients present with jaundice, pruritus, and hepatosplenomegaly. Periportal inflammation progresses to biliary cirrhosis and causes portal hypertension. Ursodeoxycholic acid (UDCA) normalizes liver function tests in approximately one half of treated PFIC type 3 patients. Partial responders or nonresponders eventually will require liver transplantation. Gallstone patients with ABCB4 mutations may have low phospholipid-associated cholelithiasis syndrome, characterized by cholesterol gallstones and intrahepatic microlithiasis, along with recurrent biliary symptoms, despite cholecystectomy. Patients with ABCB4 mutations also may develop intrahepatic brown pigment stones. UDCA may improve biliary symptoms even before the dissolution of stones occurs. Additional therapies such as farnesoid X receptor ligands/agonists and benzfibrates show future therapeutic promise. Intrahepatic cholestasis of pregnancy affects pregnant women with abnormal ABCB4. These women suffer from disabling pruritus and also may experience steatorrhea. Fetuses are at high risk for prematurity and stillbirths. The definitive treatment is delivery of the baby. In the interim, limited fat intake, fat-soluble vitamin supplementation, and UDCA with or without S-adenosylmethionine can provide symptomatic relief. Additional hepatobiliary diseases related to ABCB4 mutations are likely to be identified. This may result in the discovery of additional therapies for PFIC type 3, gallstones, and intrahepatic cholestasis of pregnancy.
机译：ABCB4（MDR3）是一种脂质转运蛋白，可将磷脂酰胆碱从小管膜的内部小叶移动到外部小叶。 ABCB4的基因突变导致三种不同但相关的肝胆疾病。进行性家族性肝内胆汁淤积（PFIC）3型是一种慢性胆汁淤积综合症，其特征在于γ-谷氨酰转肽酶明显升高。患者出现黄疸，瘙痒和肝脾肿大。周围炎症发展为胆汁性肝硬化并引起门脉高压。熊去氧胆酸（UDCA）使大约一半接受治疗的PFIC 3型患者的肝功能检查正常化。部分反应者或无反应者最终将需要肝移植。尽管进行了胆囊切除术，但具有ABCB4突变的胆结石患者可能具有低磷脂相关的胆石症候群，其特点是胆固醇结石和肝内微石症，并伴有胆道复发症状。具有ABCB4突变的患者也可能会出现肝内棕色色素结石。 UDCA甚至可以在结石溶解发生之前改善胆道症状。诸如法呢类X受体配体/激动剂和苯甲酸盐的其他疗法显示了未来的治疗前景。妊娠肝内胆汁淤积会影响异常ABCB4的孕妇。这些妇女患有致残性瘙痒症，也可能经历脂肪泻。胎儿早产和死产的风险很高。最终治疗是分娩。在此期间，有限的脂肪摄入，脂溶性维生素补充以及含或不含S-腺苷甲硫氨酸的UDCA均可缓解症状。与ABCB4突变相关的其他肝胆疾病也有可能被发现。这可能会导致发现针对PFIC 3型，胆结石和妊娠肝内胆汁淤积的其他疗法。

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