NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure

J Pediatr Gastroenterol Nutr. 2020 Jun;70(6):e111-e113. doi: 10.1097/MPG.0000000000002670.

Abstract

Pathogenic sequence variants in the nuclear bile acid receptor FXR, encoded by NR1H4, have been reported in a small number of children with low-γ-glutamyl transferase (GGT) cholestasis progressing to liver failure. We describe 3 additional children from 2 unrelated families with cholestasis and liver failure because of pathologic variants in NR1H4. One patient underwent liver transplantation and has had good clinical outcomes in 6 years of follow-up. Although that patient has biochemical evidence of increased bile acid synthetic activity, he has not experienced post-transplant diarrhea or allograft steatosis, as has been reported among other transplanted patients.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 11 / genetics
  • Child
  • Cholestasis*
  • Cholestasis, Intrahepatic* / genetics
  • Humans
  • Liver
  • Liver Failure*
  • Male
  • Mutation

Substances

  • ATP Binding Cassette Transporter, Subfamily B, Member 11

Supplementary concepts

  • Cholestasis, progressive familial intrahepatic 1