【c1 -酯酶抑制剂缺乏引起的遗传性血管性水肿】。

C Zeană
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摘要

本文报道一例c1 -酯酶抑制剂缺乏引起的家族性水肿,其特点是早期(8个月)出现,参与部分鼻粘膜发作,有鼻塞和鼻窦表现,部分局部水肿持续时间异常长,可达9天。这些危机在怀孕期间是不存在的。对该家族四代人的研究表明,该基因的遗传特征以遗传为主。本文报道了两例临床表现明显“跨越”一代人的病例。
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[Hereditary angioedema due to C1-esterase inhibitor deficiency].

The paper presents a case of family oedema by shortage of C1-esterase inhibitor, characterized by appearance at an early age (8 months), participation in some attacks of nasal mucous membrane, with nasal obstruction and sinusal manifestations and also the abnormally long period, up to 9 days, of some localized oedemas. The crises were absent during pregnancy. The study of four generations of the family showed the predominantly hereditary character of the genetic transmission. Two cases in which the disease apparently "overleapt" a generation, as clinical manifestations, were presented.

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