Progressive familial intrahepatic cholestasis.

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis (PFIC ) is a heterogeneous group of autosomal recessive childhood cholestasis of hepatocellular origin . PFIC 1 , also known as Byler disease , was first described in Amish kindred . It is characterized by cholestasis often arising in the neonatal period and it leads to death due to liver failure . PFIC 1 , like Benign Recurrent Intrahepatic Cholestasis (BRIC ) which is the benign form of the same disease , recognizes mutations in the ATP 8 B 1 gene . PFIC 2 disease is clinically similar to PFIC 1 but it has a different gene mutation causing a defect in the Bile Salt Export Pump (BSEP ), exclusively expressed in the liver and involved in the canalicular secretion of bile acids . PFIC 3 usually appears later in life and it has a higher risk of portal hypertension , gastrointestinal bleeding and liver failure . This particular form of disease (the only one with high serum values of g-glutamil transpeptidase ), is associated to a genetic defect in the class III multidrug resistance protein (MDR ). External biliary diversion and ursodeoxycholic acid therapy , should be considered as the initial therapy in these patients , even if liver transplantation still seems to be the only solution for most patients .