极早发型炎症性肠病发病机制研究进展

doi:10.12372/jcp.2023.22e0397

摘要/Abstract

摘要：

极早发型炎症性肠病（very early onset inflammatory bowel disease，VEO-IBD）是指6岁以前发病的IBD患者，近年来其发病率和患病率上升迅速。随着基因测序技术和平台的发展，发现VEO-IBD的发病与多种参与免疫途径的单基因变异有关，其是否是VEO-IBD发病的主要原因尚存争议，但明确具体变异类型可一定程度指导特定治疗。文章介绍基因变异和环境暴露在VEO-IBD发病中可能的机制途径，其中重点从四个方面阐述与VEO-IBD相关的单基因变异，为早期诊断，精准治疗提供方向。

关键词: 极早发性炎症性肠病, 发病机制, 基因, 环境

Abstract:

Very early onset inflammatory bowel disease (VEO-IBD) refers to those patients who have developed disease before the age of 6, and their incidence and prevalence have increased rapidly in recent years. With the development of gene sequencing technologies and platforms, the pathogenesis of VEO-IBD has been found to be related to the monogenic variations involved in multiple pathways of immunity. Whether the monogenic variation is the main cause of VEO-IBD is still controversial, but identifying the specific variant type can guide specific treatment to some extent. This paper introduces the possible mechanisms of gene variation and environmental exposure in the pathogenesis of VEO-IBD, focusing on four aspects of monogenic variation associated with VEO-IBD, in order to provide directions for early diagnosis and precise treatment.

Key words: very early onset inflammatory bowel disease, pathogenesis, gene, environment

庄严, 黄瑞文. 极早发型炎症性肠病发病机制研究进展[J]. 临床儿科杂志, 2023, 41(7): 549-555.

ZHUANG Yan, HUANG Ruiwen. Advances in the pathogenesis of very early onset inflammatory bowel disease[J]. Journal of Clinical Pediatrics, 2023, 41(7): 549-555.

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