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。
Primary ciliary dyskinesia（PCD） is an autosomal recessive or X-linked inherited disorder. The diagnosis of PCD is primarily based on clinical assessment accompanied with various supplementary methods, such as nasal nitric oxide（NO） examination, high-speed video microscopy, transmission electron microscopy and genetic tests. Some patients may fail to have a timely diagnosis resulted in delayed treatment since the devices and expertise limited in most medical centers. Recently, the use of immunofluorescence（IF） in PCD diagnosis is gaining acceptance within the clinical community. Specific antibodies against ciliary architecture are used in IF analyses to elucidate ciliary abnormality and are potentially important for early diagnosis of PCD. The present review summarizes the diagnostic methods of PCD with a focus on IF.
出处
《解放军医学杂志》
CAS
CSCD
北大核心
2017年第10期854-859,共6页
Medical Journal of Chinese People's Liberation Army
