Slowly Developing Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2) in an Adolescent with Cholelithiasis, Gilbert’s Syndrome and Chronic Calcifying Pancreatitis
نویسندگان
چکیده
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.
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Hepatocellular Carcinoma in a Boy with Progressive familial Intrahepatic Cholestasis Type II: Challenging Identification: Case report.
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