摘要
原发性纤毛运动障碍(PCD)以上呼吸道和下呼吸道疾病为特征,由于纤毛的结构和/或功能异常,50%的病例与内脏镜像排列有关。本文就PCD的临床特点、诊断和治疗作一综述。表现包括新生儿呼吸窘迫,复发性下呼吸道感染,慢性鼻窦炎和男性不育。PCD可用于支气管扩张、非典型哮喘和异常严重的上呼吸道疾病的鉴别诊断。诊断需要一系列的检查,首先对年龄超过10岁的患者进行糖精检测;光镜下睫状体搏动频率和模式;用电子显微镜观察睫状体的形态和方向。重要的是不要混淆原发性和继发性睫状体异常。鼻一氧化氮在PCD中是低的,这种测量显示出作为PCD筛查试验的希望。诊断是重要的,以防止发展的支气管扩张和避免任何不必要的耳鼻喉手术。 Regular follow-up is essential, and management should be multidisciplinary, with input from centres with a special interest in PCD, having access to paediatric and adult chest physicians, otolaryngologists and audiological physicians, physiotherapists, counselling services and fertility clinics. The prognosis is good, but morbidity can be considerable if PCD is incorrectly managed.