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原发性纤毛运动障碍(primary ciliary dyskinesia,PCD)是由于纤毛超微结构和(或)功能异常,导致纤毛清除功能降低或其他功能障碍的一组常染色体隐性遗传病,包括Kartagener综合征、纤毛不动综合征和纤毛运动方向缺陷,是引起儿童反复呼吸道感染的原因之一[1-2]。纤维支气管镜下气管内膜活检技术的推广及全序列外显子基因检测技术的成熟应用,对PCD患者的正确诊断有了很大帮助。现总结厦门大学附属第一医院2014年
Primary ciliary dyskinesia (PCD) is a group of autosomal recessive disorders that result in decreased ciliary clearance or other dysfunction due to ciliary ultrastructure and / or dysfunction including Kartagener’s syndrome, Cilia syndrome and ciliary movement direction defects, is caused by repeated respiratory infections in children one of the reasons [1-2]. The promotion of endobronchial biopsy under fiberoptic bronchoscopy and the mature application of full-sequence exon gene detection technology are of great help to the correct diagnosis of PCD patients. Now summarize the First Affiliated Hospital of Xiamen University in 2014