https://www.ncbi.nlm.nih.gov/pubmed/32097368 PFIC

J Pediatr Gastroenterol Nutr. 2020 Feb 24. doi:

10.1097/MPG.0000000000002670. [Epub ahead of print]

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

Himes RW1, Mojarrad M2,3, Eslahi A2,3, Finegold MJ4, Maroofian R5, Moore DD6.

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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-GGT cholestasis progressing to liver failure. We describe three additional childrenfrom two unrelated families with cholestasis and liver failure due to pathologic variants in NR1H4. One patient underwent liver transplantation and has had good clinical outcomes in six years of follow-up. While 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.