中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (4): 254-258.DOI: 10.19538/j.ek2023040603

• 专题笔谈 • 上一篇    下一篇

极早发型炎性肠病的诊断及治疗策略

  

  1. 复旦大学附属儿科医院消化科，上海  201102
  • 出版日期:2023-04-06 发布日期:2023-05-15
  • 通讯作者: 黄瑛，电子信箱：yhuang815@163.com

Diagnosis and treatment strategy of very early-onset infla-mmatory bowel disease

  1. Department of Gastroenterology，Pediatric Hospital，Fudan University，Shanghai  201102，China
  • Online:2023-04-06 Published:2023-05-15

摘要： 极早发型炎性肠病（very early-onset inflammatory bowel disease，VEO-IBD）患儿发病早、环境暴露时间有限、具有较强家族史，且多由于单基因缺陷所导致。该病与儿童及青少年 IBD 发病机制、疾病自然病程不同，VEO-IBD 患儿临床症状重，以炎性反应为主，多表现为广泛性结肠病变，伴发严重全身表现，具有较高的病死率。针对VEO-IBD，需要尽早开展精准诊断及治疗策略，以改善患儿治疗结局及预后。

关键词: 极早发型炎性肠病, 单基因疾病, 基因检测, 精准诊治

Abstract: Patients with very early-onset inflammatory bowel disease（VEO-IBD）have early disease onset，limited environ-mental exposure，and strong family history. Most cases are due to single gene defect. This entity is different from pediatric and adolescent IBD in pathogenesis and natural disease history.VEO-IBD patients have severe inflammatory manifestations and extensive colitis with systemic involvement.Patients suffer from high mortality.In order to improve outcome and prognosis，prompt precise diagnosis and treatment should be carried out.

Key words: very early -onset inflammatory bowel disease, monogenic diseases, genetic sequencing, precision diagnosis and treatment