遗传性血管性水肿的研究进展

Advances in Hereditary Angioedema

遗传性血管性水肿是一种由于C1酯酶抑制剂的合成障碍或功能缺陷所致的常染色体显性遗传病。该病尚无满意治疗,但最近研究发现其发病的主要介质是缓激肽,故激肽释放酶抑制剂和缓激肽2型受体拮抗剂成为新药研发的热点,为治疗提供了更多的选择。对遗传性血管性水肿的病因及发病机制、临床表现及分型、治疗进行概述。

Hereditary angioedema （ HAE ） is an autosomal dominant genetic disease caused by synthesis defect or dysfunction of C 1 esterase inhibitor. Up to now, no satisfactory treatment is available for the disease, but recent studies indicate that the major mediator of angioedema is bradykinin, thus the plasma kallikrein inhibitor and the bradykinin 2 receptor （ Bk2R ） antagonist have become the hot spot of new drug investigation, and may provide clinicians with more therapeutic choices. The etiology, pathogenesis, clinical manifestations, as well as treatment of the disease are summarized.