Intrahepatic cholestasis of pregnancy in conjunction with a frameshift deletion in FGFR4.
Bile acids
Fibroblast growth factor receptor 4
Gene variant
Intrahepatic cholestasis of pregnancy
Journal
Clinics and research in hepatology and gastroenterology
ISSN: 2210-741X
Titre abrégé: Clin Res Hepatol Gastroenterol
Pays: France
ID NLM: 101553659
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
received:
31
03
2021
revised:
19
07
2021
accepted:
06
09
2021
pubmed:
14
9
2021
medline:
15
4
2022
entrez:
13
9
2021
Statut:
ppublish
Résumé
Intrahepatic cholestasis of pregnancy (ICP) is characterized by increased serum bile acid levels in the third trimester of pregnancy and resolves quickly after delivery. Here, we present the case of a 29-year-old woman who developed idiopathic liver damage during puberty, and subsequently ICP and severe pruritus during two pregnancies. DNA sequencing revealed a heterozygous deletion (c.393_delG) in the fibroblast growth factor receptor 4 (FGRF4) gene causing a premature stop codon. The resulting FGFR4 haploinsufficiency is likely to impede the enterohepatic feedback repression of hepatic bile acid synthesis via FXR and FGF19. It represents a new genetic etiology of ICP.
Identifiants
pubmed: 34517148
pii: S2210-7401(21)00179-0
doi: 10.1016/j.clinre.2021.101800
pii:
doi:
Substances chimiques
Bile Acids and Salts
0
FGFR4 protein, human
EC 2.7.10.1
Receptor, Fibroblast Growth Factor, Type 4
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
101800Informations de copyright
Copyright © 2021 Elsevier Masson SAS. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of interests The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.