The Open Gastroenterology Journal

2008, 2 : 38-40
Published online 2008 May 9. DOI: 10.2174/1874259900802010038
Publisher ID: TOGASJ-2-38

Slowly Developing Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2) in an Adolescent with Cholelithiasis, Gilbert’s Syndrome and Chronic Calcifying Pancreatitis

M. Hartleb , M. Jirsa , M. Zindr , J. Pawlowska , I. Jankowska and J. Cielecka-Kuszyk
Department of Gastroenterology, Medical University of Silesia, Katowice, Poland.

ABSTRACT

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rapidly developing hepatic disease that leads to early childhood cirrhosis and liver failure. We present a diagnostically challenging case of a 20-year-old male with 8 years history of recurrent icteric episodes and constantly normal serum levels of GGT. Genetic study disclosed two novel mutations in gene ABCB11 and liver histopathology provided evidence of intrahepatic cholestasis with slowly progressing fibrosis. Concurrent diseases were cholelithiasis and chronic calcifying pancreatitis.