Department of Pulmonary and Critical Care Medicine, Second Xiangya Hospital, Central South University, Changsha 410011, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jan 28;47(1):116-122. doi: 10.11817/j.issn.1672-7347.2022.210379.
Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.
原发性纤毛运动障碍（PCD）是一种以气道黏液纤毛清除功能障碍为特征的遗传性疾病。PCD 的估计患病率为 1∶10000 至 1∶20000。儿童的主要呼吸道表现为咳嗽、咳痰、慢性鼻炎、鼻窦炎和慢性中耳炎，而成人的最常见症状为慢性鼻窦炎、支气管扩张和不孕。约 50%的特定 PCD 相关基因突变的患者伴有内脏转位，且先天性心脏病的发病率也较高。PCD 的发病机制是基因突变导致呼吸纤毛和其他器官的运动纤毛的结构或功能障碍，导致一系列异质性临床表现，这使得 PCD 的识别和诊断变得困难。结合不同的疾病筛查工具并了解基因型与表型之间的关系，可能有助于 PCD 的早期诊断和治疗。
