原发性纤毛不动综合征诊断方法的应用进展

发布时间：2018-03-23 04:20

本文选题：原发性纤毛不动综合征　切入点：诊断　出处：《解放军医学杂志》2017年10期 　论文类型：期刊论文

【摘要】：原发性纤毛不动综合征(PCD)是一种常染色体隐性或性染色体相关的遗传疾病,需要结合患者的临床表现及多种检测手段进行诊断。其中鼻呼出气一氧化氮检测、高频数字视频成像、透射电镜和基因检测是国际指南推荐的检测手段,然而由于复杂的检测设备难以普及,往往对PCD的诊治造成延误。在目前对PCD的诊断中,免疫荧光染色法(IF)的应用日益受到重视,该方法通过对纤毛结构的特异性标志物进行染色,间接检测纤毛结构是否存在异常,具有较高的特异性,在PCD的早期筛查和辅助诊断等方面具有巨大潜力。本文针对PCD的诊断方法进行概述,并着重介绍IF在PCD诊断中的应用进展。
[Abstract]:Primary ciliary immobility syndrome (PCD) is an autosomal recessive or sex-chromosome related genetic disease, which needs to be diagnosed by combining the clinical manifestations of patients with PCD. High-frequency digital video imaging, transmission electron microscopy and gene detection are the methods recommended by international guidelines. However, because of the difficulty in popularizing complex detection equipment, the diagnosis and treatment of PCD is often delayed. The application of immunofluorescence staining (IFF) has been paid more and more attention. By staining the specific markers of cilium structure, the method indirectly detects whether there are abnormalities in cilium structure and has a high specificity. There is great potential in the early screening and auxiliary diagnosis of PCD. This paper summarizes the diagnostic methods of PCD and emphatically introduces the application of if in PCD diagnosis.
【作者单位】：南方医科大学研究生学院;广东省人民医院广东省医学科学院耳鼻咽喉头颈外科;郑州大学附属第一医院耳鼻咽喉头颈外科;南方医科大学珠江医院耳鼻咽喉科;
【分类号】：R596

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