NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review.
Clin Case Rep
; 12(2): e8531, 2024 Feb.
Article
em En
| MEDLINE
| ID: mdl-38405357
ABSTRACT
Farnesoid X receptor (FXR) is a nuclear bile acid receptor encoded by the NR1H4 gene, a vital regulator of bile acid homeostasis. Pathogenic mutations of NR1H4 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 the NR1H4 termination mutation.
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MEDLINE
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En
Ano de publicação:
2024
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Article