遗传性III型血管性水肿:新疾病还是新诊断?

L. Bouillet
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引用次数: 0

摘要

III型遗传性angiœdema (HAE)表现出与I型和II型相同的症状,与C1Inh缺乏有关。受影响最大的是女性。最初的症状通常出现在怀孕期间或服用联合药物的妇女。C1Inh和C4检测正常。一些III型HAE可能与Hageman因子基因突变有关。III型HAE的诊断很困难。激肽原酶活性测定和Hageman因子基因分析将在未来对我们有所帮助。治疗策略尚不清楚:可以使用氨甲环酸。此外,C1Inh浓缩液可用于喉部发作。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Les angiœdème héréditaires de type III : nouvelle maladie ou nouveau diagnostic ?

Type III hereditary angiœdema (HAE) presents the same symptoms as type I and type II ones, which are associated with C1Inh deficiency. Women are principally affected. First symptoms often appear during pregnancies or with women taking combined pills. C1Inh and C4 assays are normal. Some of type III HAE can be associated with mutations of the Hageman factor gene. Type III HAE diagnosis is difficult. Kininogenase activity assay and the Hageman factor gene analysis will help us in the future. Treatment strategy is not known: tranexamic acid could be used. Also, C1Inh concentrate could be administrated for laryngeal attacks.

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