摘要原发性纤毛运动障碍(PCD)是一种以纤毛结构和功能异常为特征的遗传病，呼吸系统症状是PCD最主要的临床表现。目前超过50个基因被确定为PCD的致病基因，PCD的病因更加明确。PCD尚无特殊的治疗方法和诊断的金标准，基因治疗可以恢复纤毛运动，基因检测可以明确遗传学病因，促进基因治疗的发展。现就PCD的病因和基因诊疗研究进展进行综述。

abstractsPrimary ciliary dyskinesia (PCD) is an inherited disease characterized by impaired ciliary ultrastructure and function.Respiratory symptoms are the most important clinical manifestations of PCD.More than 50 pathogenic genes responsible for PCD have been identified, which have been contributed to clarify the etiology of PCD.At present, special therapy and gold standard for the diagnosis of PCD are scant.Gene therapy can restore ciliary function.Gene testing can identify the genetic etiology of PCD, and promote the development of individualized gene therapy.This review aims to summarize the research progress on genetic etiology of PCD and its genetic testing and gene therapy.