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用于原发性纤毛运动障碍早期诊断的纤毛运动分析方法的开发与验证

Development and validation of a method of cilia motility analysis for the early diagnosis of primary ciliary dyskinesia.

作者信息

Armengot Miguel, Bonet Mireya, Carda Carmen, Gómez María José, Milara Javier, Mata Manuel, Cortijo Julio

机构信息

Sección de Rinología, Servicio de Otorrinolaringología, Hospital General Universitario, Universidad de Valencia, Valencia, España.

出版信息

Acta Otorrinolaringol Esp. 2012 Jan-Feb;63(1):1-8. doi: 10.1016/j.otorri.2011.07.001. Epub 2011 Sep 9.

Abstract

BACKGROUND

Primary ciliary dyskinesia (PCD) is a clinically uniform entity, but cilia motility and structure can vary between patients, making the diagnostic difficult. The aim of this study was to evaluate the sensitivity and specificity in diagnosing PCD of a system of high-resolution digital high-speed video analysis with proprietary software that we developed for analysis of ciliary motility (Desinsoft-Bio 200). The secondary aim was to correlate nasal ciliary activity with clinical and structural abnormalities in PCD.

MATERIAL AND METHODS

We analysed nasal mucociliary transport, cilia ultrastructure, nasal ciliary beat frequency and beat pattern studied by high-resolution digital high-speed video in 25 cases of PCD (11 Kartagener syndrome), 27 secondary ciliary dyskinesia and 34 healthy volunteers.

RESULTS

Nasal mucociliary transport was defective in both primary and secondary ciliary dyskinesia. Ciliary immotility was observed only in 6 patients with Kartagener syndrome and correlated with the absence of dynein. We observed a correlation between partial dynein deficiencies and ciliary dyskinesia. Cilia activity and structure was normal in secondary ciliary dyskinesia.

CONCLUSION

Nasal mucociliary transport showed high sensitivity for PCD diagnosis with a low specificity. High-resolution digital high-speed video has a high sensitivity and specificity for diagnosing PCD. This system of video analysis is more useful than ultrastructural study and mucociliary transport for PCD screening. Dynein absence is correlated with cilia immotility and is more common in patients with Kartagener syndrome.

摘要

背景

原发性纤毛运动障碍(PCD)是一种临床症状统一的疾病,但不同患者的纤毛运动和结构存在差异,这使得诊断变得困难。本研究的目的是评估我们开发的用于分析纤毛运动的专有软件(Desinsoft-Bio 200)的高分辨率数字高速视频分析系统在诊断PCD方面的敏感性和特异性。次要目的是将鼻纤毛活动与PCD的临床和结构异常相关联。

材料与方法

我们通过高分辨率数字高速视频分析了25例PCD患者(11例卡塔格内综合征)、27例继发性纤毛运动障碍患者和34名健康志愿者的鼻黏液纤毛运输、纤毛超微结构、鼻纤毛摆动频率和摆动模式。

结果

原发性和继发性纤毛运动障碍患者的鼻黏液纤毛运输均存在缺陷。仅在6例卡塔格内综合征患者中观察到纤毛不动,且与动力蛋白缺失相关。我们观察到部分动力蛋白缺陷与纤毛运动障碍之间存在相关性。继发性纤毛运动障碍患者的纤毛活动和结构正常。

结论

鼻黏液纤毛运输对PCD诊断具有高敏感性但特异性低。高分辨率数字高速视频对PCD诊断具有高敏感性和特异性。该视频分析系统在PCD筛查中比超微结构研究和黏液纤毛运输更有用。动力蛋白缺失与纤毛不动相关,在卡塔格内综合征患者中更常见。

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