CAJ | 학술논문

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。
유전성혈관성수종( HAE)시일충소견적상염색체현성유전병，유C1지매억제제( C1INH)기인돌변인기，이발작성피하화점막하조직수종위특정，수종루급피부、호흡도、위장도등다개기관조직。인기발병솔저，림상표현다양상난이진단。현취해병적발병궤제、림상특점화치료작일종술。
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.