Collison Rachael, Hyatali Saara A, Kamenova Antoniya, Rashed Adam, Riley Dylan, Kumar Kartik, Stowell Janet M, Loebinger Michael R
Department of Respiratory Medicine, Northwick Park Hospital, London North West University Healthcare NHS Trust, London, UK.
Department of Respiratory Medicine, Croydon University Hospital, Croydon Health Services NHS Trust, London, UK.
Clin Med (Lond). 2025 May;25(3):100319. doi: 10.1016/j.clinme.2025.100319. Epub 2025 Apr 30.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by abnormal function of motile cilia. The condition usually manifests in early life with neonatal distress, chronic sinopulmonary disease and organ laterality disorders. In adults, it is an underdiagnosed cause of bronchiectasis as well as subfertility. This review provides an overview of PCD for clinicians. We discuss its aetiology, its presentation, how it is diagnosed and its multidisciplinary clinical management.
原发性纤毛运动障碍（PCD）是一种罕见的遗传性疾病，其特征为运动性纤毛功能异常。该病症通常在生命早期表现为新生儿窘迫、慢性鼻窦肺疾病和器官位置异常。在成年人中，它是支气管扩张症以及生育力低下的一个诊断不足的病因。本综述为临床医生提供了PCD的概述。我们讨论了其病因、表现、诊断方法及其多学科临床管理。
