Hereditary angioedema (HAE) is a rare,unpredictable,autosomal dominant disorder characterized by recurrent swelling in subcutaneous and submucosal tissue.In recent years,the pathophysiology and pathogenesis of HAE have been continuously studied and elucidated.In addition to the genes encoding complement 1 esterase inhibitors,new pathogenic variants have been identified in the genes encoding coagulation factor Ⅻ,plasminogen,angiopoietin-1,kininogen,heparan sulfate 3-O-sulfotransferase 6,and myoferlin in HAE.Moreover,different pathogenic variants have different mechanisms in causing HAE.In addition,the pathogenic genes of some patients remain unknown.This review summarizes the recent progress in the classification,epidemiology,pathophysiology,and pathogenesis of HAE,aiming to provide ideas for further fundamental research,clinical diagnosis,and drug development of HAE.
遗传性血管性水肿(HAE)是一种罕见的、不可预测的、以反复发作的皮肤和黏膜下水肿为特征的常染色体显性遗传病。近年来,HAE相关病理生理和发病机制不断被更新与阐明,HAE致病变异除了涉及编码补体1酯酶抑制剂基因外,在凝血因子Ⅻ基因、纤维蛋白溶解酶原基因、血管生成素-1基因、激肽原基因、硫酸乙酰肝素3-O-磺基转移酶6基因、肌纤维蛋白基因中发现了新的致病性变异,而且发现不同的致病变异导致水肿的机制也不同。此外,仍有部分患者的致病基因不明。本文对HAE的分类、流行病学、病理生理及发病机制进行更新与总结,旨在为HAE进一步的基础研究、临床诊断和药物开发提供思路。.
Keywords: C1 esterase inhibitor; SERPING1 gene; bradykinin; hereditary angioedema; pathogenesis.