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

Chiao-Yu Yang1,2, Hung-Wen Tsai3,4, Yen-Yin Chou1

  • 1Department of Pediatrics National Cheng Kung University Hospital Tainan Taiwan.

Clinical Case Reports
|February 26, 2024
PubMed

Insights

A termination mutation in the NR1H4 gene causes progressive familial intrahepatic cholestasis type 5 (PFIC-5), leading to severe liver disease in infants. This case highlights the critical role of the Farnesoid X receptor (FXR) in bile acid regulation.

Area of Science:

  • Hepatology
  • Genetics
  • Molecular Biology

Background:

  • The Farnesoid X receptor (FXR), encoded by NR1H4, is a nuclear receptor crucial for regulating bile acid homeostasis.
  • Mutations in NR1H4 are associated with progressive familial intrahepatic cholestasis type 5 (PFIC-5), a severe liver disorder.

Observation:

  • This report details a case of an infant experiencing rapid cholestasis and liver failure.
  • The infant presented with a termination mutation in the NR1H4 gene.

Findings:

  • The NR1H4 termination mutation was identified as the cause of the infant's severe cholestatic liver disease.
  • This genetic defect disrupts Farnesoid X receptor (FXR) function, leading to impaired bile acid metabolism.

Implications:

  • This case underscores the critical role of NR1H4 and FXR in maintaining liver health and bile acid balance.
  • Understanding this genetic link can aid in the diagnosis and potential therapeutic strategies for PFIC-5.
  • Early identification of NR1H4 mutations is vital for managing progressive liver failure in affected infants.

Keywords:
NR1H4 genePFIC‐5neonatal cholestasisshear wave elastography

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