Progressive familial intrahepatic cholestasis

MDR3, a homologue of MDR1, is responsible for the biliary excretion of phospholipids, and a hereditary defect in this gene results in the acquisition of progressive familial intrahepatic cholestasis Type 3 [80-82]. 

De Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. 

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nature Genet 1998 20(3) 233-238. 

Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999 117(6) 1370— 1379. 

V. Keitel, M. Burdelski, U. Warskulat, T. Kuhlkamp, D. Keppler, D. Haussinger, and R. Kubitz. Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis. Hepatology. 41 1160-1172 (2005). 

BSEP also known as sister-P-glycoprotein (SPGP) was originally cloned from pig liver (185). BSEP is localized on the canalicular membrane of hepa-tocytes and is responsible for the secretion of bile salts across the canalicular membrane into bile. BSEP appears to be the predominant bile salt efflux system for hepatocytes, and is a critical component in the enterohepatic circulation of bile acids. A number of mutations in the transporter were found to the basis for progressive familial intrahepatic cholestasis type 2 (PFIC2) (186-188). Mutations found in PFIC2 patients include frameshifts, missense mutations, and premature termination codons. Most PFIC2 patients lack immunohistochemically detectable BSEP in their liver. Recently, seven... 

Wang L, Soroka CJ, Boyer Jl. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest 2002 110 965-972. 

Cholestatic Alagille s syndrome Progressive familial intrahepatic cholestasis... 

Progressive familial intrahepatic cholestasis (PFIC) was described by R.C. Juberg et al. (1966) (30) and R.J. Clayton et al. (1969) (9). This rare clinical picture was previously known as Byler s disease or Juberg-Clayton type. It corn-... 

G., Freimer, N.B., Gardiner, R.M. and Thompson, R.J. (1998) A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nature Genetics, 20, 233-238. 

Scheimann. A.O., Strautnieks, S.S, Knisely. A.S., Byrne, J. A., Thompson, R.J.. and Finegold, M.(. (2007) Mutations in bile salt export pump (ABCBll) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. The Journal of Pediatrics. 150, 556-559. 

ABCBll Progressive familial intrahepatic cholestasis type 2... 

ATP8B1 NBD-PS, PS , PE Progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis... 

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