Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis types 1 , 2 and 3 are childhood diseases of the liver . Benign recurrent intrahepatic cholestasis is predominantly an adult form with similar clinical symptoms that spontaneously resolve . These genetic disorders have significantly helped to unravel the basic mechanisms of the canalicular bile transport processes . Progressive familial intrahepatic cholestasis type 1 involves a gene also linked to benign recurrent intrahepatic cholestasis . The gene codes for an aminophospholipid translocase protein that maintains the integrity of the membrane . How a mutation in this protein causes cholestasis is unknown but is thought to involve the enterohepatic recirculation of bile acids . Progressive familial intrahepatic cholestasis types 2 and 3 involve the canalicular bile salt export pump and a phospholipid translocase , respectively , both of which are fundamental to bile secretion . This review covers the clinical manifestations , genetics , treatment and mechanism of each disease .