儿童原发性纤毛运动障碍

Primary ciliary dyskinesia in children

原发性纤毛运动障碍（PCD）是由纤毛运动异常引起的一组基因遗传性疾病，常在儿童期以呼吸道症状起病，表现为反复呼吸道感染、慢性支气管炎、慢性鼻窦炎、慢性中耳炎、支气管扩张等。透射电镜检查纤毛结构是诊断PCD的金标准，纤毛摆动频率及摆动形式、鼻呼出一氧化氮及基因检测也可以帮助诊断PCD。目前，PCD尚无特效治疗方法，以对症治疗为主。早期诊断、预防反复呼吸道感染，可延缓支气管扩张的发生，改善预后。

Primary ciliary dyskinesia （PCD） is a group of inherited genetic disorder caused by ciliary dyskinesia, the onset age of which is often in childhood, manifestations as recurrent respiratory infections, chronic bronchitis, chronic sinusitis, chronic otitis media, bronchiectasis and so on.Ciliary ultrastructural defects seen by transmission electron microscopy are considered as the golden criteria of PCD diagnosis.Other investigations may help the diagnosis, which include ciliary beat frequency and pattern analysis, nasal nitric oxide, and gene test.There is no special effective therapy of PCD, and mainly symptomatic treatment is used.Early diagnosis and the prevention of recurrent respiratory infections can delay the bronchiectasis formation and improve the prognosis.