解放军医学院学报2017，Vol.38Issue(10)：981-983,3.DOI:10.3969/j.issn.2095-5227.2017.10.019
罕见病原发性纤毛运动障碍综述
Primary ciliary dyskinesia
摘要
Abstract
Primary ciliary dyskinesia (PCD) is a rare genetic disease in which defects of ciliary ultrastructure and malfunction lead to multi-system manifestations including bronchiectasis,sinusitis,otitis media,situs inversus,infertility and so on.Although there is no gold standard for diagnosis of PCD,in most cases,the diagnosis of PCD requires a concordant clinical phenotype and a series of tests such as nasal nitric oxide to be distinctly low,or high-speed video microscopy to reveal abnormal ciliary beat pattern or transmission electron microscopy to define ciliary ultrastructural defects and so on.关键词
原发性纤毛运动障碍/基因突变/支气管扩张/诊断Key words
primary ciliary dyskinesia/gene mutation/bronchiectasis/diagnosis分类
医药卫生引用本文复制引用
邹思凡,肖坤,解立新..罕见病原发性纤毛运动障碍综述[J].解放军医学院学报,2017,38(10):981-983,3.基金项目
国家自然科学基金项目(81370103) （81370103）
解放军总医院科技创新苗圃基金(15KMM03)Supported by the National Natural Science Foundation of China(81370103) （15KMM03）
