Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 6, 2021; 9(4): 878-885
Published online Feb 6, 2021. doi: 10.12998/wjcc.v9.i4.878
Clinical characteristics and ABCC2 genotype in Dubin-Johnson syndrome: A case report and review of the literature
Huan Wu, Xue-Ke Zhao, Juan-Juan Zhu
Huan Wu, Xue-Ke Zhao, Juan-Juan Zhu, Department of Infectious Diseases, The Affiliated Hospital of Guizhou Medical University, Guiyang 550001, Guizhou Province, China
Author contributions: Zhu JJ contributed to conceptualization and funding acquisition; Wu H, Zhu JJ and Zhao XK contributed to analyzing and interpreting the patient data, and performing the experiments; Wu H and Zhao XK contributed to paper writing and revision; All authors read and approved the final manuscript.
Supported by The Talents of Qiankehe platform of China, No. [2018]5779-40; the Zhuke Contract, No. [2018]1-92; and the Qiankehe Support, No. [2017]2874.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: We declare that we have no conflicts 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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Juan-Juan Zhu, MD, Assistant Professor, Department of Infectious Diseases, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Guiyang 550001, Guizhou Province, China. 184184239@qq.com
Received: September 1, 2020
Peer-review started: September 1, 2020
First decision: November 8, 2020
Revised: November 20, 2020
Accepted: December 6, 2020
Article in press: December 6, 2020
Published online: February 6, 2021
Abstract
BACKGROUND

Dubin-Johnson syndrome (DJS) is a benign autosomal recessive liver disease involving mutations of the ABCC2 gene. It is characterized by chronic or intermittent conjugated hyperbilirubinemia, with chronic idiopathic jaundice as the main clinical manifestation. Genetic alterations of the ABCC2 gene are commonly used for diagnosing DJS; however, the causative ABCC2 point mutation in Chinese patients remains unknown. Research on ABCC2 mutations in Chinese DJS patients is extremely rare, and the diagnosis of DJS remains limited. The routine analysis of ABCC2 mutations is helpful for the diagnosis of DJS. Here, we report the clinical characteristics and ABCC2 genotype of an adult female DJS patient. This article is to expound the discovery of more potentially pathogenic ABCC2 variants will that contribute to DJS identification.

CASE SUMMARY

This study investigated a woman referred for DJS and involved clinical and genetic analyses. ABCC2 mutations were identified by next-generation sequencing (NGS). The patient showed intermittent jaundice and conjugated hyper-bilirubinemia. Histopathological examinations were consistent with the typical phenotype of DJS. Genetic diagnostic analysis revealed an ABCC2 genotype exhibiting a pathogenic variant, namely c.2443C>T (p.Arg815*), which has not been reported previously in the domestic or foreign literature.

CONCLUSION

Pathogenic ABCC2 mutations play an important role in the diagnosis of DJS, especially in patients with atypical presentations. Currently, NGS is used in the routine analysis of DJS cases and such tests of further cases will better illuminate the relationship between various genotypes and phenotypes of DJS.

Keywords: Dubin-Johnson syndrome, ABCC2 genotype, Next-generation sequencing, ABCC2 mutation, Homozygous mutation, Case report

Core Tip: Our study reported the pathological characteristics and a new ABCC2 mutation in a patient with Dubin-Johnson syndrome (DJS). A 24-year-old female with intermittent jaundice and conjugated hyperbilirubinemia underwent laparoscopic exploration and liver biopsy, which confirmed the diagnosis of DJS. Next-generation sequencing analysis showed ABCC2 mutations. Our study reports a novel ABCC2 mutation in a DJS patient.