摘要
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.
Abstract
Hereditary angioedema(HAE)is a rare,unpredictable,autosomal dominant disorder char-acterized 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 comple-ment 1 esterase inhibitors,new pathogenic variants have been identified in the genes encoding coagulation factorⅫ,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 patho-genic 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 re-search,clinical diagnosis,and drug development of HAE.
维普
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