Progressive familial intrahepatic cholestasis type 2 - paediatric patients followed at the Paediatric Clinic of the 2nd Medical Faculty, University Hospital Motol, Prague

Abstract

Progressive familial intrahepatic cholestasis type 2 is an autosomal recessive cholestatic liver disease caused by a deficiency in canalicular ATP-dependent bile salt export pump BSEP. We present case reports and collected data of six Czech patients suffering from this disease, diagnosed between 2005 and 2015, in whom seven new mutations in ABCB11 were revealed by molecular analysis.

Keywords

• BSEP
• liver transplantation
• progressive familial intrahepatic cholestasis type 2
• pruritus
• ursodeoxycholic acid