臨床消化器病学ジャーナル

A Case of Benign Recurrent Intrahepatic Cholestasis Unlinked to ATP8B1 and ABCB11

Abstract

Hany Eskarous1* and Anuragh Gudur

Benign Recurrent Intrahepatic Cholestasis (BRIC) is a rare genetic disorder characterized by recurring episodes of jaundice. Two subtypes of BRIC have been well-characterized in the literature: BRIC I, caused by mutations in ATP8B1 gene, and BRIC II, triggered by mutations in ABCB11 gene. There are exceedingly rare cases of BRIC in which individuals do not have mutations in either of the associated genes, suggesting the possibility additional loci implicated in this disorder. Herein, we present a case of BRIC in a 21-year-old male who demonstrated clinical, biochemical and histological evidence of disease but lacked both of the associated mutations in ATP8B1 and ABCB11.