遗传性血管性水肿伴正常 C1 抑制剂的诊断与治疗。
Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor.
机构信息
Department of Dermatology, Johannes Gutenberg University, Mainz, Germany.
出版信息
Allergy Asthma Clin Immunol. 2010 Jul 28;6(1):15. doi: 10.1186/1710-1492-6-15.
Abstract
Until recently it was assumed that hereditary angioedema is a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity and protein in plasma were described. Since then numerous patients and families with that condition have been reported. Most of the patients by far were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. Recently, in some families mutations in the coagulation factor XII (Hageman factor) gene were detected in the affected persons.
摘要
直到最近，人们还认为遗传性血管性水肿是一种完全由 C1 抑制剂遗传缺陷引起的疾病。2000 年，描述了具有遗传性血管性水肿、正常 C1 抑制剂活性和血浆蛋白的家族。从那时起，已经报道了许多具有这种情况的患者和家庭。到目前为止，大多数患者都是女性。在许多受影响的女性中，口服避孕药、含有雌激素的激素替代疗法和妊娠引发了临床症状。最近，在一些家族中，在受影响的个体中检测到凝血因子 XII（ Hageman 因子）基因突变。
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