Solé D, Leser P G, Naspitz C K
Department of Pediatrics, Escola Paulista de Medicina, São Paulo, Brazil.
J Investig Allergol Clin Immunol. 1992 Nov-Dec;2(6):318-22.
Hereditary angioedema (HA) is caused by a quantitative or qualitative deficiency of C1 esterase inhibitor (C1 INH). We present a study of nine patients with HA belonging to two different families. The symptoms started before 10 years of age in most cases (78%). Facial edema (lips, eyes) and of the extremities (feet, hands) were the most frequent complaints. Three patients presented edema of the glottis and one of them underwent a tracheostomy twice. Laboratory tests, outside the acute crisis, revealed low levels of C4 in all patients. The serum levels of C1 INH were normal in seven patients; however, functional activity was not observed in any of them. After the use of a modified androgen (danazol), control of symptoms was observed in all patients, although functional activity was re-established in only five patients.
遗传性血管性水肿（HA）由C1酯酶抑制剂（C1 INH）的数量或质量缺陷引起。我们对来自两个不同家族的9例HA患者进行了一项研究。多数病例（78%）症状始于10岁之前。面部水肿（嘴唇、眼睛）和四肢（足部、手部）水肿是最常见的主诉。3例患者出现声门水肿，其中1例接受了两次气管切开术。在急性发作期之外的实验室检查显示，所有患者的C4水平均较低。7例患者的C1 INH血清水平正常；然而，未观察到其中任何1例有功能活性。使用改良雄激素（达那唑）后，所有患者的症状均得到控制，不过仅5例患者的功能活性得以恢复。
