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Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders that causes liver disease which usually manifest during childhood [1]. These are subdivided based on gamma-glutamyl transferase activity (GGT) activity. The first form, familial intrahepatic cholestasis (FIC) 1 deficiency also known as Byler disease, is associated with defects in ATP8B1 gene on chromosome 18, which encodes for FIC1 protein [2]. The second type, bile salt export pump (BSEP) deficiency, is caused by mutations in the ABCB11gene [3]. Both deficiencies have low or normal GGT activity. Mutation in adenosine ABCB4 gene encoding the multidrug-resistant 3 (MDR3) protein causes MDR3 deficiency or PFIC type 3, where serum GGT levels are generally elevated [4]. The latest addition to PFIC family of diseases is tight junction protein 2 (TJP2) deficiency (PFIC type 4)[5]. This protein is …