遗传性血管性水肿发病机制

Pathogenetic Mechanism of Heterditary Angioedema

遗传性血管性水肿(HAE)是以C1酯酶抑制剂(C1 INH)或FⅫ基因突变为分子遗传学基础、以发作性皮肤和(或)黏膜下水肿为主要表现的一种遗传性疾病。作为一种重要的丝氨酸蛋白酶抑制剂,C1酯酶抑制剂在补体系统、接触系统、纤溶系统、凝血系统等多个系统中发挥着重要作用,当其出现缺陷时会引起缓激肽形成级联反应的过度活化,这是水肿发作病理生理机制中的主要环节,现已有大量实验数据支持这一观点。而对于FⅫ基因突变引发水肿的具体机制尚不清楚。此外还有部分患者并未携带上述2种基因的突变,他们发生水肿的原因还有待进一步的研究。

Hereditoray angioedema（HAE） is a very rare disease which is caused by the mutations in C1-INH gene or FⅫ gene and characterized by recurrent episodes of angioedema involved the skin,or the mocusa of the upper air way and gastrointestinal tract etc.C1-INH as a serpin,plays an important role in regulating activation of the complement system,the contact system,and the intrinsic coagulation system.Due to deficiency of C1-INH,the bradykinin-forming cascade will be over activated and then angioedema will be induced.This mechanism forms a major part of pathogenesis of HAE termed typeⅠand Ⅱ.However,there is still another type of HAE termed type Ⅲ,which is not associated with C1-INH deficiency.The mechanism of type Ⅲ HAE causes angioedema is still not clear.