遗传性血管性水肿 |
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引用本文: | 张雪英,李文飞. 遗传性血管性水肿[J]. 中国麻风皮肤病杂志, 2014, 0(9): 541-544 |
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作者姓名: | 张雪英 李文飞 |
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作者单位: | 山东省单县中心医院皮肤科;山东大学附属千佛山医院皮肤科; |
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摘 要: | 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。
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关 键 词: | 遗传性血管性水肿 |
Review on hereditary angioedeme |
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Affiliation: | ZHANG Xue-ying, LI Wen-fei.( Department of Dermatology and Venerology, Shah County Central Hospital of Shan Dong Province ,274300) |
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Abstract: | 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. |
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Keywords: | hereditary angioedema |
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