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遗传性血管性水肿:一种被忽视的诊断。

Hereditary angioneurotic oedema: a neglected diagnosis.

作者信息

Morris G E, Slavin B M, Browse N L

出版信息

J Clin Pathol. 1987 May;40(5):516-7. doi: 10.1136/jcp.40.5.516.

Abstract

A case of hereditary angioneurotic oedema, which was only diagnosed after presentation to several hospital departments, is reported. It was then discovered that the mother of the patient had the same condition but that, unusually, it appeared to have been in remission for more than 20 years. This disease, due to C1 esterase inhibitor deficiency, is potentially fatal but easily treatable. The diagnosis is often missed.

摘要

报告了一例遗传性血管性水肿病例,该病例在辗转多个医院科室就诊后才得以确诊。随后发现患者的母亲也患有同样的疾病,但不同寻常的是,其病情似乎已经缓解了20多年。这种由于C1酯酶抑制剂缺乏引起的疾病有潜在致命风险,但易于治疗。其诊断常常被漏诊。

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