中国实用儿科杂志

中国实用儿科杂志

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儿童炎症性肠病与免疫缺陷

  

  1. 复旦大学附属儿科医院风湿科，上海  201102
  • 出版日期:2018-01-06 发布日期:2018-01-26

Inflammatory bowel disease and immunodeficiency in children

  1. Department of Rheumatology， Children’s Hospital of Fudan University， Shanghai 201102， China
  • Online:2018-01-06 Published:2018-01-26

摘要：

炎症性肠病（IBD）是指原因不明的一组慢性非特异性、 反复发作的肠道炎症性疾病。儿童IBD的发病率在过去的50年里明显增高。一般将发病年龄＜6岁的IBD称为极早发IBD（VEO-IBD），占儿童IBD的4%～10%。VEO-IBD被认为与遗传因素相关性更大，单基因突变检出率更高。该部分具有单基因突变的VEO-IBD，其受累基因很多归为原发性免疫缺陷病。这些基因缺陷导致固有免疫、适应性免疫、上皮屏障等多方面功能损伤，从而导致VEO-IBD的发生。由于不同类型原发性免疫缺陷病合并IBD的治疗手段及预后有所不同，可通过基因测序技术实现早期诊断，选择合适的治疗方法，从而实现早期干预，改善患者的预后。

关键词: 极早发炎症性肠病, 免疫缺陷, 基因检测, 治疗

Abstract:

Inflammatory bowel disease（IBD） is a chronic and recurrent gastrointestinal inflammatory disease that can present at any age. There has been a dramatic increase in the incidence of pediatric IBD over the past 50 years. Very-early-onset IBD（VEO-IBD） is defined as onset of IBD within the first 6 years of life，which constitutes 4% to 10% of pediatric IBD cases. It is generally accepted that many patients with VEO-IBD are associated with a greater degree of genetic susceptibility，and many of these diseases are classified as primary immunodeficiencies（PID）. Monogenic defects have been found to alter intestinal immune homeostasis via several mechanisms，including dysfunction of innate immune system，dysfunction of adaptive immunity or disruption of the epithelial barrier. Due to the differences in the prognosis and medical management，an early diagnosis of an IBD combined with immunodeficiency should be made via genetic analysis. A proper treatment can be selected to achieve the effect of early intervention，thus improving the prognosis.

Key words: very-early-onset inflammatory bowel disease, immunodeficiency, genetic analysis, treatment