Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 26, 2022; 10(6): 1998-2006
Published online Feb 26, 2022. doi: 10.12998/wjcc.v10.i6.1998
Novel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report
Tian-Fu Liu, Jing-Jing He, Liang Wang, Ling-Yi Zhang
Tian-Fu Liu, Jing-Jing He, Liang Wang, Ling-Yi Zhang, Department of Hepatology, Lanzhou University Second Hospital, Lanzhou 730030, Gansu Province, China
Author contributions: Liu TF reviewed the literature and was responsible for manuscript drafting and organization of illustrations; He JJ and Wang L analyzed and interpreted the pathological findings, immunohistochemical findings, and genetic mutations; Zhang LY was responsible for revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted.
Supported by Natural Science Foundation of Gansu Province, No. 21JR7RA410.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ling-Yi Zhang, MD, Professor, Department of Hepatology, Lanzhou University Second Hospital, No. 82 Cuiyingmen, Chengguan District, Lanzhou 730030, Gansu Province, China. zhanglymd@126.com
Received: August 29, 2021
Peer-review started: August 29, 2021
First decision: November 16, 2021
Revised: November 25, 2021
Accepted: January 11, 2022
Article in press: January 11, 2022
Published online: February 26, 2022
Processing time: 178 Days and 0.7 Hours
Abstract
BACKGROUND

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.

CASE SUMMARY

This is a case study of a 32-year-old infertile female Chinese patient with a 15-year history of recurrent abnormal liver function. Her primary clinical signs were elevated levels of alkaline phosphatase and γ-glutamyl transpeptidase. Other possible reasons for liver dysfunction were eliminated in this patient, resulting in a diagnosis of PFIC3. The diagnosis was confirmed using gene detection and histological analyses. Assessments using genetic sequencing analysis indicated the presence of two novel heterozygous mutations in the ABCB4 gene, namely, a 2950C>T; p.A984V mutation (exon 24) and a 667A>G; p.I223V mutation (exon 7). After receiving ursodeoxycholic acid (UDCA) treatment, the patient's liver function indices improved, and she successfully became pregnant by in vitro fertilization. However, the patient developed intrahepatic cholestasis of pregnancy in the first trimester. Fortunately, treatment with UDCA was safe and effective.

CONCLUSION

These novel ABCB4 heterozygous mutations have a variety of clinical phenotypes. Continued follow-up is essential for a comprehensive understanding of PFIC3.

Keywords: Progressive familial intrahepatic cholestasis type 3; ABCB4 gene; Infertility; Intrahepatic cholestasis of pregnancy; Case report

Core Tip: This is the first case report of an adult patient with progressive familial intrahepatic cholestasis type 3 (PFIC3) and infertility. Gene detection was central to making a definitive diagnosis. The novel ABCB4 heterozygous mutations observed exhibited a variety of clinical phenotypes. A genetic predisposition to infertility may also be present in this patient and requires further research. The discovery of these new mutations has enriched the information on the clinical features of PFIC3 and contributed to a more comprehensive understanding of ABCB4 disease.