Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.

ABSTRACT:

Background

Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug resistance protein-3 (MDR3) that acts as a hepatocanalicular floppase that transports phosphatidylcholine from the inner to the outer canalicular membrane. In the absence of phosphatidylcholine, the detergent activity of bile salts is amplified and this leads to cholangiopathy, bile duct loss and biliary cirrhosis. Patients usually present in infancy or childhood and often progress to end-stage liver disease before adulthood.

Case presentation

We report a 32-year-old female who required cadaveric liver transplantation at the age of 17 for cryptogenic cirrhosi

SUBMITTER: Goubran M 

PROVIDER: S-EPMC7708126 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature