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Ann Pathol. 2010 Dec;30(6):426-31. doi: 10.1016/j.annpat.2010.08.025. Epub 2010 Nov 11.

[Liver disease associated with hereditary defects of hepatobiliary transporters].

[Article in French]

Author information

1
Hôpital Saint-Antoine, AP-HP, Paris, France. dominique.wendum@sat.aphp.fr

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).

PMID:
21167428
DOI:
10.1016/j.annpat.2010.08.025
[Indexed for MEDLINE]
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