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©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Mar 7, 2018; 24(9): 1035-1045
Published online Mar 7, 2018. doi: 10.3748/wjg.v24.i9.1035
Published online Mar 7, 2018. doi: 10.3748/wjg.v24.i9.1035
Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China
You-Hong Fang, You-You Luo, Jin-Dan Yu, Jin-Gan Lou, Jie Chen, Department of Gastroenterology, Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, Zhejiang Province, China
Author contributions: Chen J, Fang YH and Luo YY designed the research; Fang YH, Luo YY, Yu JD, Lou JG and Chen J performed the research; Fang YH analyzed the data; Fang YH and Chen J wrote the paper.
Supported by Zhejiang Province Medical Platform Backbone, No. 2017KY436.
Institutional review board statement: This study was reviewed and approved by the Ethics Committee of the Children’s Hospital of Zhejiang University School of Medicine.
Conflict-of-interest statement: The authors have no financial relationships to disclose.
Data sharing statement: No additional data are available.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
Correspondence to: Jie Chen, MD, Attending Doctor, Chief Doctor, Department of Gastroenterology, Children’s Hospital, Zhejiang University School of Medicine, 3333 Bin Sheng Road, Hangzhou 310052, Zhejiang Province, China. hzcjie@zju.edu.cn
Telephone: +86-571-87061007
Received: December 12, 2017
Peer-review started: December 12, 2017
First decision: January 18, 2018
Revised: January 31, 2018
Accepted: February 8, 2018
Article in press: February 8, 2018
Published online: March 7, 2018
Peer-review started: December 12, 2017
First decision: January 18, 2018
Revised: January 31, 2018
Accepted: February 8, 2018
Article in press: February 8, 2018
Published online: March 7, 2018
Core Tip
Core tip: This study is the largest study to analyze clinical differences between monogenic and nonmonogenic very-early-onset inflammatory bowel disease (VEO-IBD) in China. Moreover, we characterized monogenic IBD phenotypically and genotypically through genetic testing (whole exome sequencing and targeted gene panel sequencing). We found a high proportion of monogenic IBD in the VEO-IBD group, with the most common monogenic IBD being IL10R mutation. Monogenic IBD and nonmonogenic IBD showed similar clinical features. Next-generation sequencing played an important role in the diagnosis of monogenic IBD.