Open AccessProgressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report
Author(s) -
Piotr Czubkowski,
Richard J. Thompson,
Irena Jankowska,
A. S. Knisely,
Milton J. Finegold,
Pamela Parsons,
Joanna Cielecka-Kuszyk,
Sandra Strautnieks,
Joanna Pawłowska,
Laura N. Bull
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i15.3631
Subject(s) - farnesoid x receptor , cholestasis , medicine , progressive familial intrahepatic cholestasis , liver transplantation , neonatal cholestasis , steatosis , bile acid , gastroenterology , bile salt export pump , endocrinology , transplantation , biliary atresia , nuclear receptor , biology , biochemistry , transporter , transcription factor , gene
Functioning farnesoid X receptor (FXR; encoded by NR1H4 ) is key to normal bile acid homeostasis. Biallelic mutations in NR1H4 are reported in a few children with intrahepatic cholestasis. We describe a boy with progressive familial intrahepatic cholestasis and homozygous mutation in NR1H4 .