Defective ABCB11 causes progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2

Stable Identifier
R-HSA-5678520
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this pathway in the Pathway Browser

The bile salt export pump ABCB11 mediates the release of bile salts from liver cells into bile. Defects in ABCB11 can cause two clinically distinct forms of cholestasis; progressive familial intrahepatic cholestasis 2 (PFIC2; MIM:601847) and benign recurrent intrahepatic cholestasis 2 (BRIC2; MIM:605479). Cholestasis is characterized by the retention of bile acids or salts. Bile acids can damage hepatocytes and bile duct cells leading to inflammation, fibrosis, cirrhosis and eventually carcinogenesis. PFIC2 patients suffer from chronic cholestasis and develop liver fibrosis, cirrhosis and end-stage liver disease before adulthood. BRIC2 patients experience intermittent episodes of cholestasis that resolve spontaneously after weeks or months (Strubbe et al. 2012, Cuperus et al. 2014).

Literature References
PubMed ID Title Journal Year
24474736 The role of canalicular ABC transporters in cholestasis

Cuperus, FJ, Claudel, T, Gautherot, J, Halilbasic, E, Trauner, M

Drug Metab. Dispos. 2014
23402083 Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review

Strubbe, B, Geerts, A, Van Vlierberghe, H, Colle, I

Acta Gastroenterol. Belg. 2012
Participants
Participant Of
Disease
Name Identifier Synonyms
intrahepatic cholestasis 1852 intrahepatic cholestasis of pregnancy
Authored
Reviewed
Created
Cite Us!