Clinicopathological features of severe forms of low gamma‐glutamyltranspeptidase familial intrahepatic cholestasis in Korean pediatric patients

摘要: Background and aim: Low gamma-glutamyltranspeptidase (γ-GTP) familial intrahepatic cholestasis is a broad-spectrum condition that ranges from mild to severe. Severe forms of low γ-GTP cholestasis, including progressive type-1 -2 (PFIC-1 PFIC-2), present with symptoms early in life may progress cirrhosis. Methods: We included five patients γ-GTP, hyperbilirubinemia. analyzed clinicopathological features these cases. Results: The age the at diagnosis ranged 1 month year old. All presented jaundice, one experienced pruritus. In contrast hyperbilirubinemia, serum levels were relatively low, or within normal range. Microscopically, intracanalicular bile duct loss atrophy varying degrees fibrosis found all cases, whereas giant cell formation hepatocytes was detected three Anti-ABCB11 immunostaining revealed expression cases diffuse transformation but retained case no transformation. Conclusions: PFIC-2) should be considered differential when pediatric cholestatic liver diseases associated relative extent cholestasis.