| ISSN |
1948-5182 (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) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| 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 |
Retrospective Study |
| Article Title |
Clinical characteristics and genetic causes of unexplained pediatric liver disease
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Yuan Chen, Zhi-Yi Wang, Bao-Qi Chen, Yu-Juan Qi, Hai-Yan Liu, Wen-Xin Shi, Lu Guo, Zhi Liu and Li-Feng Sun |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation of China |
82400641 |
| Natural Science Foundation of Shandong Province |
ZR2022QH076 and ZR2021MH381 |
|
| Corresponding Author |
Li-Feng Sun, Associate Chief Physician, Pediatric Gastroenterology Fellow, PhD, Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, No. 324 Jing Wu Road, Jinan 250021, Shandong Province, China. lifengsun2008@163.com |
| Key Words |
Whole-exome sequencing; Liver disease; Pediatric; Wilson's disease; Alagille syndrome |
| Core Tip |
In recent years, the number of pediatric patients with unexplained liver disease has been increasing. Whole-exome sequencing (WES) technology has played a significant role in the diagnosis; however, related studies remain limited. We found that WES significantly increased the diagnosis rate of liver diseases of unknown cause in children, guided personalized treatment, and improved prognosis. The mutation spectra of genes such as ATP7B and JAG1 provide important references for the molecular diagnosis of inherited liver diseases in Chinese children. In the future, functional studies and multi-omics integration will be required to elucidate the pathogenic mechanisms of novel variants and to advance the application of precision medicine in the field of pediatric hepatology. |
| Publish Date |
2025-10-27 10:57 |
| Citation |
Chen Y, Wang ZY, Chen BQ, Qi YJ, Liu HY, Shi WX, Guo L, Liu Z, Sun LF. Clinical characteristics and genetic causes of unexplained pediatric liver disease. World J Hepatol 2025; 17(10): 109770 |
| URL |
https://www.wjgnet.com/1948-5182/full/v17/i10/109770.htm |
| DOI |
https://dx.doi.org/10.4254/wjh.v17.i10.109770 |
