遗传性血管性水肿发病机制研究进展  

Advances in the Pathogenesis of Hereditary Angioedema

作　　者：曹阳[1] 刘爽[1] 支玉香[1] CAO Yang;LIU Shuang;ZHI Yuxiang(Department of Allergy,PUMC Hospital,CAMS and PUMC,Beijing 100730,China)

机构地区：[1]中国医学科学院,北京协和医学院,北京协和医院变态反应科,北京100730

出　　处：《中国医学科学院学报》2020年第5期686-690,共5页Acta Academiae Medicinae Sinicae

基　　金：国家自然科学基金(81472870)。

摘　　要：遗传性血管性水肿(HAE)是一种罕见的、以反复发作的皮下和/或黏膜下水肿为特征的遗传性疾病。目前已知的发病相关基因包括补体1酯酶抑制剂基因、FⅫ基因、纤维蛋白溶解酶原基因以及血管生成素1基因。本文从已知的基因突变切入,通过分析该突变对于蛋白产物功能的影响,梳理其可能的致病机制,以期为进一步揭示HAE的发病机制以及寻求新的预防和治疗途径提供参考。Hereditary angioedema(HAE)is a rare,hereditary disease characterized by recurrent subcutaneous and submucosal edema.Known genes associated with the pathogenesis of HAE include C1 esterase inhibitor gene,FⅫgene,plasminogen gene,and angiopoietin 1 gene.Based on the known gene mutations,this review analyzes the effects of these mutations on the functions of protein products to figure out the possible pathogenic mechanism,so as to provide references for further investigations on the pathogenesis of HAE and seeking new prevention and treatment approaches.

关 键 词：遗传性血管性水肿 发病机制 致病基因 缓激肽 血管通透性 

分 类 号：R596.2[医药卫生—内科学]