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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 muta- tions in gene ABCB11 and liver histopathology provided evidence of intrahepatic cholestasis with slowly progressing fi- brosis. Concurrent diseases were cholelithiasis and chronic calcifying pancreatitis.

the open gastroenterology journal

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