Primary ciliary dyskinesia (PCD) is a rare, inherited disorder characterised by abnormal ciliary structure or function, leading to impaired mucociliary clearance. The condition primarily affects the respiratory system, where dysfunctional cilia fail to effectively move mucus, microorganisms and particles out of the airways, resulting in chronic respiratory infections, bronchiectasis and rhino-sinusitis. Other associated features include organ laterality defects (e.g. situs inversus totalis or situs ambiguus) from embryonic nodal cilia dysfunction and fertility issues due to defective cilia in the reproductive system. PCD typically presents in early childhood with persistent wet coughing, nasal congestion and recurrent ear infections, necessitating lifelong management to prevent complications [1–3].

原发性纤毛运动障碍 （PCD） 是一种罕见的遗传性疾病，其特征是纤毛结构或功能异常，导致粘膜纤毛清除功能受损。这种情况主要影响呼吸系统，功能失调的纤毛无法有效地将粘液、微生物和颗粒排出气道，导致慢性呼吸道感染、支气管扩张和鼻窦炎。其他相关特征包括胚胎结纤毛引起的器官偏侧性缺陷（例如 Situus inversus totalis 或 situus ambiguus）、纤毛功能障碍以及生殖系统中纤毛缺陷引起的生育问题。PCD 通常在儿童早期表现为持续性湿咳、鼻塞和复发性耳部感染，需要终身治疗以防止并发症 [1–3]。