中国实用儿科杂志

中国实用儿科杂志 ›› 2024, Vol. 39 ›› Issue (6): 425-432.DOI: 10.19538/j.ek2024060605

• 专题笔谈 • 上一篇    下一篇

系统性自身炎症性疾病治疗进展

  

  1. 中国医学科学院  北京协和医学院  北京协和医院儿科，北京  100730
  • 出版日期:2024-06-06 发布日期:2024-07-11
  • 通讯作者: 宋红梅，电子信箱：songhm1021@126.com
  • 基金资助:
    国家重点研发计划（2021YFC2702001）；北京协和医院中央高水平医院临床科研专项（2022-PUMCH-B-079）

Progress in the treatment of systemic autoinflammatory diseases

  1. Department of Pediatrics，Peking Union Medical College Hospital，Chinese Academy of Medical Sciences & Peking Union Medical College，Beijing  100730，China
  • Online:2024-06-06 Published:2024-07-11

摘要： 系统性自身炎症性疾病（SAIDs）是一组以反复或持续炎症反应和多系统受累为核心表现的遗传性疾病，其中固有免疫发挥主要致病作用。根据不同通路进行JAK抑制剂、白介素（IL）-1通路抑制剂、肿瘤坏死因子（TNF）抑制剂等靶向治疗已经在SAIDs中取得了很好的疗效，而随着疾病机制认识的进展、新基因的发现、新分类的提出，不断有新的靶点、新的治疗策略被应用于临床和研究。文章综述近3年SAIDs的治疗进展，介绍治疗理念的更新，以促进对此类疾病的认识及其未来的诊治和研究。

关键词: 自身炎症, 靶向治疗, 造血干细胞移植, 基因治疗, 个体化治疗

Abstract: Systemic autoinflammatory diseases（SAIDs） are a group of genetic disorders characterized by recurrent or persistent inflammatory responses and multi-system involve-ment， where the innate immune system plays a major role in disease pathogenesis. Although pathway -directed targeted therapies such as JAK inhibitors， IL-1 pathway inhibitors， and TNF inhibitors have achieved good response in some SAIDs. New targets and treatment strategies， powered by the understanding of disease mechanisms， the discovery of new genes， and the proposal of new classifications， are continuously applied in clinical practice and research. This article reviews the progress in the treatment of SAIDs in the past three years， introduces the updates in SAIDs treatment， and aims to promote the recognition， diagnosis， treatment， and research of such diseases in the future.

Key words: autoinflammation, targeted therapy, hemato-poietic stem cell transplantation, gene therapy, personalized treatment