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

Chiao-Yu Yang; Hung-Wen Tsai; Yen-Yin Chou; Yao-Jong Yang

doi:10.1002/ccr3.8531

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

Clin Case Rep. 2024 Feb 23;12(2):e8531. doi: 10.1002/ccr3.8531. eCollection 2024 Feb.

Authors

Chiao-Yu Yang^{1

2}, Hung-Wen Tsai^{3

4}, Yen-Yin Chou¹, Yao-Jong Yang^{1

4}

Affiliations

¹ Department of Pediatrics National Cheng Kung University Hospital Tainan Taiwan.
² Department of Pediatrics, An Nan Hospital China Medical University Tainan Taiwan.
³ Department of Pathology National Cheng Kung University Hospital Tainan Taiwan.
⁴ Institute of Clinical Medicine College of Medicine, National Cheng Kung University Tainan Taiwan.

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.

Keywords: NR1H4 gene; PFIC‐5; neonatal cholestasis; shear wave elastography.

Publication types

Case Reports