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[原发性纤毛运动障碍]

[Primary ciliary dyskinesia].

作者信息

Raos M, Bela-Klancir S, Dodig S, Koncul I, Sćukanec-Spoljar M

机构信息

Specijalna bolnica za bolesti disnog sustava djece i mladezi Srebrnjak, Zagreb.

出版信息

Lijec Vjesn. 1998 Dec;120(12):373-6.

Abstract

The immotile cilia syndrome is a genetic disease characterized by chronic disease of the upper and lower respiratory tract, male infertility and situs viscerum inversus in 50% of affected patients. Abnormalities of ciliary structure are the cause of abnormalities in mucociliary clearance and chronic inflammation consecutively. The boy aged 13 years with clinical manifestations (chronic rhinorrhea, sinuitis, recurrent otitis media, recurrent bronchial inflammation, pneumonia and finally bronchiectasis) has been presented. The boy had a normal visceral status. The diagnosis was confirmed by electron microscopy analysis of cross section of bronchial cilia: numerous abnormalities in microtubules positioning and lack of radiar arms have been found.

摘要

不动纤毛综合征是一种遗传性疾病,其特征为上、下呼吸道的慢性疾病、男性不育,且50%的受累患者存在内脏反位。纤毛结构异常是黏液纤毛清除功能异常及继而引发慢性炎症的原因。本文介绍了一名13岁男孩,其临床表现为(慢性鼻漏、鼻窦炎、复发性中耳炎、复发性支气管炎、肺炎,最终发展为支气管扩张)。该男孩内脏状态正常。通过对支气管纤毛横截面进行电子显微镜分析确诊:发现微管定位存在大量异常且缺乏放射状臂。

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