遗传性血管性水肿的病理生理学
Pathophysiology of Hereditary Angioedema.
作者信息
Caccia Sonia, Suffritti Chiara, Cicardi Marco
机构信息
Department of Biotechnologies and Translational Medicine, University of Milan, Milan, Italy .
Department of Biomedical and Clinical Sciences L.Sacco, University of Milan, Milan, Italy .
出版信息
Pediatr Allergy Immunol Pulmonol. 2014 Dec 1;27(4):159-163. doi: 10.1089/ped.2014.0425.
Abstract
The genetic deficiency of the C1 inhibitor is responsible for hereditary angioedema (HAE), which is a disease transmitted as an autosomal dominant trait. More than 200 point mutations in the C1 inhibitor gene have been found to be associated with HAE. Patients with this disease suffer from recurrent angioedema, which is mediated by bradykinin derived from activation of the contact system. This system is physiologically controlled at several steps by the C1 inhibitor. In this review, we describe known mechanisms for the development of angioedema in patients with C1 inhibitor deficiency.
摘要
C1抑制剂的基因缺陷是遗传性血管性水肿（HAE）的病因，这是一种以常染色体显性特征遗传的疾病。已发现C1抑制剂基因中有200多个点突变与HAE相关。患有这种疾病的患者会反复出现血管性水肿，这是由接触系统激活产生的缓激肽介导的。该系统在生理上由C1抑制剂在多个步骤进行控制。在这篇综述中，我们描述了C1抑制剂缺乏患者血管性水肿发生的已知机制。
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