NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death.

Zhong-Die LiYu-Chuan Linull Jing-ZhaoJian-She WangXin-Bao Xie

Published in: Orphanet journal of rare diseases (2024)

We identified three newly-diagnosed patients and five novel mutations. NR1H4-related PFIC typically cause progressive disease and early death. LT may be the only lifesaving therapy leading to cure.

Keyphrases

newly diagnosed
end stage renal disease
ejection fraction
multiple sclerosis
stem cells
peritoneal dialysis
drug induced
patient reported outcomes