Fletcher A, Weetman A P
University of Sheffield, Department of Medicine, Northern General Hospital, UK.
Postgrad Med J. 1998 Jan;74(867):41-2. doi: 10.1136/pgmj.74.867.41.
A 34-year-old woman presented to the out-patient clinic with angioedema and type II hereditary angioedema was confirmed immunologically. She also volunteered she had never had a menstrual period and physical examination identified several features of Turner's syndrome. A mosaic karyotype with XY and XO was found on chromosomal analysis and gonadectomy was performed in view of the high risk of gonadoblastoma. After commencing oestrogen at physiological replacement doses, the patient experienced a marked deterioration in both the severity and frequency of angioedema attacks. Coexistence of hereditary angioedema and Turner's syndrome has not previously been reported and this case highlights the detrimental C1 inhibitor level lowering effect of oestrogen in hereditary angioedema.
一名34岁女性因血管性水肿到门诊就诊，经免疫学检查确诊为II型遗传性血管性水肿。她还自述从未有过月经，体格检查发现了特纳综合征的一些特征。染色体分析发现了XY和XO的嵌合核型，鉴于患性腺母细胞瘤的高风险，进行了性腺切除术。在开始使用生理替代剂量的雌激素后，患者血管性水肿发作的严重程度和频率均显著恶化。遗传性血管性水肿与特纳综合征并存此前未见报道，该病例突出了雌激素对遗传性血管性水肿中C1抑制物水平降低的有害作用。
