title: [Liver disease associated with hereditary defects of hepatobiliary transporters].
abstract: 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).
authors.affiliation: Hôpital Saint-Antoine, AP-HP, Paris, France. dominique.wendum@sat.aphp.fr
authors.forename: Dominique
authors.initials: D
authors.lastname: Wendum
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000502:physiology; D000251:Adenosine Triphosphatases / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D000328:Adult; D001646:Bile / Q000378:metabolism*; D001692:Biological Transport; D002769:Cholelithiasis / Q000209:etiology; D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D019450:Genes, MDR; D006801:Humans; D007566:Jaundice, Chronic Idiopathic / Q000235:genetics; D008099:Liver / Q000378:metabolism; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D010743:Phospholipids / Q000172:deficiency; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics; D011537:Pruritus / Q000209:etiology
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; D000251:Adenosine Triphosphatases; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D010743:Phospholipids; C093491:ABCB11 protein, human; C000715087:ABCC2 protein, human; C095122:multidrug resistance protein 3; C111067:ATP8B1 protein, human