Research progress of diagnostic approaches in primary ciliary dyskinesia

VernacularTitle:原发性纤毛不动综合征诊断方法的应用进展
Author: Yang PENG ¹ ; 510080 广州广东省人民医院,广东省医学科学院耳鼻咽喉头颈外科 ; Zhuo CHEN ; chao Zhen ZHU ; Chi ZHANG ; hui Qian QIU
Author Information

1. 510515 广州南方医科大学研究生学院;510080 广州广东省人民医院,广东省医学科学院耳鼻咽喉头颈外科
Keywords: primary ciliary dyskinesia; diagnosis; immunofluorescence
From: Medical Journal of Chinese People's Liberation Army 2017;42(10):854-859
CountryChina
Language:Chinese
Abstract: 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.