Schindera F, Struck E, Spira W
Monatsschr Kinderheilkd. 1982 May;130(5):269-75.
The hereditary angioneurotic edema is probably a more frequent disease than presumed until now. It is inherited as an autosomal dominant trait, and is due to diminished or functionally deficient C1 esterase inhibitor. Family history is negative in cases of spontaneous mutations. Two thirds of the patients are already affected in infancy with peripheral edema, facial edema, abdominal symptoms and/or edema of the glottis occuring spontaneously or secondary to trauma. Recently the prognosis has become better due to early diagnosis and the possibility of substitution therapy with C1 esterase inhibitor. A long-term prophylaxis may be achieved with synthetic androgens.
遗传性血管性水肿可能是一种比目前推测更为常见的疾病。它作为常染色体显性性状遗传，是由于C1酯酶抑制剂减少或功能缺陷所致。在自发突变的病例中家族史为阴性。三分之二的患者在婴儿期就已受到影响，出现外周水肿、面部水肿、腹部症状和/或声门水肿，这些症状可自发出现或继发于创伤。近来，由于早期诊断以及使用C1酯酶抑制剂进行替代治疗的可能性，预后已有所改善。使用合成雄激素可实现长期预防。
