Open AccessNovel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report
Author(s) -
TianFu Liu,
Jingsong He,
Liang Wang,
Lingyi Zhang
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i6.1998
Subject(s) - cholestasis of pregnancy , ursodeoxycholic acid , cholestasis , medicine , progressive familial intrahepatic cholestasis , exon , compound heterozygosity , liver function , mutation , gene mutation , liver function tests , gastroenterology , pathology , gene , pregnancy , genetics , liver transplantation , fetus , biology , transplantation
Mutations that occur in the ABCB4 gene, which encodes multidrug-resistant protein 3, underlie the occurrence of progressive familial intrahepatic cholestasis type 3 (PFIC3). Clinical signs of intrahepatic cholestasis due to gene mutations typically first appear during infancy or childhood. Reports of PFIC3 occurring in adults are rare.