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: Chiao ‐Yu Yang,
Hung‐Wen Tsai,
Yen‐Yin Chou,
Yao‐Jong Yang Tags: CASE REPORT Source Type: research
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