Cholestatic Liver Disease in Late Childhood: A Report of Two Rare Cases

Abstract

Cholestatic liver disease in late childhood has a comprehensive list of aetiologies, requiring a multidimensional approach. Among these, the genetic aetiology can range from having a self-limiting course to being associated with morbidity and mortality, requiring liver transplantation. Progressive Familial Intrahepatic Cholestasis (PFIC) and Benign Recurrent Intrahepatic Cholestasis (BRIC) are two rare inherited autosomal recessive cholestatic disorders. Both are related to mutations in the bile formation transport system and typically manifest in infancy or early childhood. Among the PFIC types, The PFIC type 3 rapidly progresses to end-stage liver disease, while BRIC follows a benign course with intermittent asymptomatic periods. Here, authors describe two (17-year-old male, 19-year-old male) such unusual inherited autosomal recessive cholestatic disorders in late childhood: PFIC (type 3) and BRIC, which have distinct clinical presentations and liver function derangements.

Keywords

• benign recurrent intrahepatic cholestasis
• progressive familial intrahepatic cholestasis type 3