干扰素基因刺激蛋白相关婴儿期发病血管病变研究进展  

Progress of Research on Stimulator of Interferon Genes-Associated Vasculopathy with Onset in Infancy

作　　者：陈赛花 穆妮热·麦麦提 仲梓维 洪泽 王琛 CHEN Saihua;MAIMAITI Munire;ZHONG Ziwei;HONG Ze;WANG Chen(Department of Life Science and Technology,China Pharmaceutical University,Nanjing 211198,China;State Key Laboratory on Technologies for Chinese Medicine Pharmaceutical Process Control and Intelligent Manufacture,Nanjing University of Chinese Medicine,Nanjing 210046,China)

机构地区：[1]中国药科大学生命科学与技术学院,江苏南京211198 [2]南京中医药大学中药制药过程控制与智能制造技术全国重点实验室,江苏南京210046

出　　处：《药学进展》2025年第2期137-145,共9页Progress in Pharmaceutical Sciences

基　　金：国家自然科学基金青年科学基金(No.82204408);国家自然科学基金(No.82171751)。

摘　　要：干扰素基因刺激蛋白(STING)相关婴儿期发病血管病变(SAVI)是一种由STING基因发生功能获得性突变所诱发的罕见的自身炎症疾病。随着近年临床报道的SAVI病例逐渐增多、相关小鼠疾病模型的建立,研究人员对于该疾病的发病机制和治疗策略的认识逐渐深入。综述对已报道的SAVI病例进行系统性回顾,简述其病理机制和治疗策略,以期为该罕见病的临床治疗提供参考。Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy(SAVI)is a rare auto-inflammatory disease caused by gain-of-function mutations in human STING1 gene.With the increasing number of SAVI patients reported in recent years and the establishment of related mouse disease models,researchers have gradually deepened their understanding of the pathogenesis and treatment strategies of SAVI.This paper systematically reviews the reported cases of SAVI to briefly describe their pathological mechanisms and treatment strategies,with a view to providing some reference for the clinical treatment of this rare disease.

关 键 词：干扰素基因刺激蛋白 STING相关婴儿期发病血管病变 自身炎症疾病 罕见病 

分 类 号：R593.2[医药卫生—内科学]