中国实用儿科杂志

中国实用儿科杂志 ›› 2026, Vol. 41 ›› Issue (5): 429-434.DOI: 10.19538/j.ek2026050614

• 综述 • 上一篇    下一篇

MEK抑制剂治疗RAS信号通路相关综合征中心血管表型的研究进展

  

  1. 南京医科大学附属儿童医院心血管内科，江苏  南京  210008
  • 出版日期:2026-05-06 发布日期:2026-06-25
  • 通讯作者: 杨世伟，电子信箱：jrdoctoryang@163.com
  • 基金资助:
    江苏省自然科学基金面上项目（SBK20250202398）；南京市卫生科技发展项目重点项目（ZKX24038）

MEK inhibitors for cardiovascular phenotypes in RASopathies：a review of research advances

  1. Department of Cardiology，Children’s Hospital of Nanjing Medical University，Nanjing  210008，China
  • Online:2026-05-06 Published:2026-06-25

摘要： RAS信号通路相关综合征（RASopathies）是一种罕见的发育障碍综合征，由调节RAS/丝裂原活化蛋白激酶（mitogen-activated protein kinase，MAPK）途径的基因的胚系突变引起，包括努南综合征、Costello综合征等疾病。肥厚型心肌病是其主要临床表现之一，婴幼儿患者病死率极高，目前尚缺乏标准安全且有效的治疗手段。近年来，丝裂原细胞外激酶（mitogen extracellular kinase，MEK）抑制剂的出现为RASopathies的治疗带来了新的希望。MEK抑制剂通过抑制RAS/MAPK信号通路，在治疗肥厚型心肌病及心律失常等方面展现出显著潜力，成为该领域的突破性治疗策略。该文就MEK抑制剂治疗RASopathies相关心血管疾病的研究进展进行综述。

关键词:

Abstract: RASopathies are a group of rare developmental disorders caused by germline mutations in genes regulating the RAS/MAPK pathway，including conditions such as Noonan syndrome and Costello syndrome. Hypertrophic cardiomyopathy is one of its primary clinical manifestations，with an extremely high mortality rate among infants and young children. Currently，standardized, safe and effective treatment strategies are still lacking.In recent years，the emergence of MEK inhibitors has brought new hope for the treatment of RASopathies. By inhibiting the RAS/MAPK signaling pathway，MEK inhibitors have demonstrated significant potential in the treatment of hypertrophic cardiomyopathy and arrhythmias，representing a groundbreaking therapeutic strategy in this field. This article reviews the research progress of MEK inhibitors in the treatment of cardiovascular diseases associated with RASopathies.

Key words: