Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis. The estimated PCD prevalence in children with bronchiectasis is up to 26% and in adults with bronchiectasis is 1 to 13%. Due to dysfunction of the multiple motile cilia of the respiratory tract patients suffer from poor mucociliary clearance. Clinical manifestations are heterogeneous; however, a typical patient presents with chronic productive cough and rhinosinusitis from early life. Other symptoms reflect the multiple roles of motile cilia in other organs and can include otitis media and hearing loss, infertility, situs inversus, complex congenital heart disease, and more rarely other syndromic features such as hydrocephalus and retinitis pigmentosa. Awareness, identification, and diagnosis of a patient with PCD are important for multidisciplinary care and genetic counseling. Diagnosis can be pursued through a multitest pathway which includes the measurement of nasal nitric oxide, sampling the nasal epithelium to assess ciliary function and structure, and genotyping. Diagnosis is confirmed by the identification of a hallmark ultrastructural defect or pathogenic mutations in one of > 45 PCD causing genes. When a diagnosis is established management is centered around improving mucociliary clearance through physiotherapy and treatment of infection with antibiotics. The first international randomized controlled trial in PCD has recently been conducted showing azithromycin is effective in reducing exacerbations. It is likely that evidence-based PCD-specific management guidelines and therapies will be developed in the near future. This article examines prevalence, clinical features, diagnosis, and management of PCD highlighting recent advances in basic science and clinical care.

原发性纤毛运动障碍 (PCD) 是支气管扩张的遗传原因。据估计，支气管扩张儿童的 PCD 患病率高达 26%，而成人支气管扩张的 PCD 患病率为 1% 至 13%。由于呼吸道多动纤毛功能障碍，患者的黏液纤毛清除能力较差。临床表现异质；然而，典型的患者从小就出现慢性咳痰和鼻窦炎。其他症状反映了运动纤毛在其他器官中的多重作用，可能包括中耳炎和听力损失、不孕症、内脏倒置、复杂先天性心脏病，以及更罕见的其他综合征特征，如脑积水和色素性视网膜炎。意识、识别、和诊断 PCD 患者对于多学科护理和遗传咨询很重要。可以通过多种测试途径进行诊断，包括鼻一氧化氮的测量、鼻上皮取样以评估纤毛功能和结构以及基因分型。通过在> 45个PCD引起基因之一中鉴定出标志性的超微结构缺陷或致病突变来确认诊断。确诊后，管理的重点是通过物理治疗和抗生素治疗来改善粘液纤毛清除。最近进行的首个 PCD 国际随机对照试验表明，阿奇霉素可有效减少病情加重。很有可能在不久的将来制定基于证据的 PCD 特定管理指南和疗法。本文探讨了 PCD 的患病率、临床特征、诊断和管理，重点介绍了基础科学和临床护理的最新进展。