遗传性血管性水肿

Review on hereditary angioedeme

遗传性血管性水肿(HAE)是一种少见的常染色体显性遗传病,由C1酯酶抑制剂(C1INH)基因突变引起,以发作性皮下和黏膜下组织水肿为特征,水肿累及皮肤、呼吸道、胃肠道等多个器官组织。因其发病率低,临床表现多样常难以诊断。现就该病的发病机制、临床特点和治疗作一综述。

Hereditary angioedema （ HAE） is a race autosomal dominant disease caused by mutations in the C1INH gene. The characteristics of HAE are paroxysmal swelling of subcutaneous and submucosa of derma, respiratory tract, gastrointestinal tract and so on. The diagnosis of the disease is usually difficult because of the variety of the clinical symptoms. The clinical course and pathogenesis and treatment of HAE is reviewed.