| ISSN |
2307-8960 (online) |
| 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/ |
| Copyright |
©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
|
| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
|
| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Gastroenterology & Hepatology |
| Manuscript Type |
Case Report |
| Article Title |
Relationship of familial cytochrome P450 4V2 gene mutation with liver cirrhosis: A case report and review of the literature
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Jin-Lian Jiang, Jiang-Fu Qian, De-Hui Xiao, Xia Liu, Fang Zhu, Jie Wang, Zhou-Xiong Xing, De-Lin Xu, Yuan Xue and Yi-Huai He |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation of China |
82160370 |
| Science and Technology Planning Projects of Guizhou Province and Zunyi City |
No. QKHJC-ZK[2022]YB642 |
| Science and Technology Planning Projects of Guizhou Province and Zunyi City |
No. gzwjkj2020-1-041, and No. ZMC·YZ[2018]38 |
|
| 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 |
| Key Words |
Cirrhosis; Genetic metabolic liver disease; Cytochrome P450 4V2; Dual Oxidase activator 2; Bietti Crystalline corneoretinal dystrophy; Case report |
| 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. |
| Publish Date |
2022-09-27 13:00 |
| Citation |
Jiang JL, Qian JF, Xiao DH, Liu X, Zhu F, Wang J, Xing ZX, Xu DL, Xue Y, He YH. Relationship of familial cytochrome P450 4V2 gene mutation with liver cirrhosis: A case report and review of the literature. World J Clin Cases 2022; 10(28): 10346-10357 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i28/10346.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i28.10346 |
