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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
Relationship of familial cytochrome P450 4V2 gene mutation with liver cirrhosis: A case report and review of the literature
Jin-Lian Jiang, Jiang-Fu Qian, De-Hui Xiao, Xia Liu, Fang Zhu, Jie Wang, Zhou-Xiong Xing, De-Lin Xu, Yuan Xue, Yi-Huai He
Jin-Lian Jiang, Xia Liu, Jie Wang, Yi-Huai He, Department of Infectious Diseases, Affiliated Hospital of Zunyi Medical University, Zunyi 563003, Guizhou Province, China
Jiang-Fu Qian, De-Hui Xiao, Fang Zhu, Department of Digestion, Dafang County People’s Hospital, Bijie 551600, Guizhou Province, China
Zhou-Xiong Xing, Department of Intensive Care, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou Province, China
De-Lin Xu, Department of Cell Biology, Zunyi Medical University, Zunyi 563099, Guizhou Province, China
Yuan Xue, Department of Liver Diseases, the Third People’s Hospital of Changzhou, Changzhou 213000, Jiangsu Province, China
Author contributions: Jiang JL and Qian JF contributed equally to this work; Jiang JL, Qian JF, Xiao DH, and Zhu F collected medical history; Liu X and Wang J summarized and analyzed the medical history data; He YH and Jiang JL conceived and designed the content of the article; Jiang JL and Qian JF wrote the initial paper; He YH, Xu DL, Xue Y, and Xing ZX revised the paper; He YH had primary responsibility for final content; all authors read and approved the final manuscript.
Supported by the National Natural Science Foundation of China, No. 82160370; and the Science and Technology Planning Projects of Guizhou Province and Zunyi City, No. QKHJC-ZK[2022]YB642, No. ZSKH·HZ(2022)344, No. gzwjkj2020-1-041, and No. ZMC·YZ[2018]38.
Informed consent statement: Informed written consent was obtained from the patients for the 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: Yi-Huai He, MM, Director, Department of Infectious Diseases, Affiliated Hospital of Zunyi Medical University, No. 201 Dalian Street, Zunyi 563003, Guizhou Province, China. 993565989@qq.com
Received: June 17, 2022
Peer-review started: June 17, 2022
First decision: July 12, 2022
Revised: August 2, 2022
Accepted: August 25, 2022
Article in press: August 25, 2022
Published online: October 6, 2022
Processing time: 102 Days and 4.9 Hours
BACKGROUND
Many genetic and metabolic diseases affect the liver, but diagnosis can be difficult because these diseases may have complex clinical manifestations and diverse clinical patterns. There is also incomplete clinical knowledge of these many different diseases and limitations of current testing methods.
CASE SUMMARY
We report a 53-year-old female from a rural area in China who was hospitalized for lower limb edema, abdominal distension, cirrhosis, and hypothyroidism. We excluded the common causes of liver disease (drinking alcohol, using traditional Chinese medicines, hepatitis virus infection, autoimmunity, and hepatolenticular degeneration). When she was 23-years-old, she developed night-blindness that worsened to complete blindness, with no obvious cause. Her parents were first cousins, and both were alive. Analysis of the patient’s family history indicated that all 5 siblings had night blindness and impaired vision; one sister was completely blind; and another sister had night-blindness complicated with cirrhosis and subclinical hypothyroidism. Entire exome sequencing showed that the patient, parents, and siblings all had mutations in the cytochrome P450 4V2 gene (CYP4V2). The CYP4V2 mutations of the parents and two sisters were heterozygous, and the others were homozygous. Two siblings also had heterozygous dual oxidase activator 2 (DUOXA2) mutations.
CONCLUSION
Mutations in the CYP4V2 gene may affect lipid metabolism and lead to chronic liver injury, fibrosis, and cirrhosis.
Core Tip: We describe two patients from consanguineous parents who had liver cirrhosis, were completely blind, and had familial mutations in the cytochrome P450 4V2 (CYP4V2) gene. The four other siblings of these patients were night-blind, and one also had cirrhosis. CYP4V2 functions in hepatic lipid metabolism and inflammatory responses. We suggest that this CYP4V2 gene mutation affects hepatic lipid metabolism and inflammatory responses, which leads to chronic liver injury and may subsequently progress to liver fibrosis and cirrhosis.
