白俄罗斯共和国遗传证实的遗传性血管性水肿患者的人口学特征

I. Guryanova, K. Skapavets, A. Liubushkin, E. Polyakova, I. Ausianik, S. Aleshkevich, A. Salivonchik, V. Vertelko, Y. Zharankova, M. Belevtsev
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引用次数: 0

摘要

介绍。遗传性血管性水肿(HAE)是一种罕见的、难以诊断的、危及生命的遗传性疾病,预计发病率约为1:30 000。目的。目的:研究白俄罗斯共和国一组经遗传证实的遗传性血管性水肿患者的人口学特征。材料和方法。该研究纳入了来自34个无血缘关系家庭的92例遗传确诊HAE的白俄罗斯患者,男女比例为1:1.3。临床和人口统计数据取自患者问卷和/或医疗记录。结果。患者的中位年龄为32岁,诊断时的中位年龄为28岁。72%的患者在18岁之前发病(中位数为13岁),从首次出现症状到诊断为HAE的中位延迟时间为12.5年。半数男性患者在9岁前首次发病,90%在20岁前发病。在女性患者中,50%和90%分别在15岁和23岁之前首次发病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Demographic characteristics of patients with genetically confirmed hereditary angioedema in the Republic of Belarus
Introduction. Hereditary angioedema (HAE) is a rare, difficult to diagnose, and life-threatening genetic disorder with an expected incidence of about 1:30 000. Purpose. To study the demographic characteristics in a cohort of patients with genetically confirmed hereditary angioedema in the Republic of Belarus. Materials and methods. The study included 92 Belarusian patients from 34 unrelated families with genetically confirmed HAE, the ratio of male and female patients was 1:1.3. Clinical and demographic data was taken from patient questionnaires and/or medical records. Results. The median age of tpatients was 32 years, and the median age at diagnosis was 28 years. The onset of the disease in 72% of patients occurred before the age of 18 years (median 13 years), the median delay from the onset of the first symptoms and the diagnosis of HAE was 12.5 years. Half of male patients develop first attacks before the age 9, and 90% by the age of 20. Of female patients, 50 and 90% have first attacks before the age of 15 and 23, respectively.
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