NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review

AbstractFarnesoid X receptor (FXR) is a nuclear bile acid receptor encoded by theNR1H4 gene, a vital regulator of bile acid homeostasis. Pathogenic mutations ofNR1H4 manifest as low gamma-glutamyl transferase (GGT) cholestasis with rapid progression to liver failure, which is referred to as progressive familial intrahepatic cholestasis 5 (PFIC-5). Herein, we present a case with rapid progressive cholestasis, liver failure in early infancy with theNR1H4 termination mutation.
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CASE REPORT Source Type: research