Follow-Up of Children With Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder resulting in defective ciliary motility, which leads to a spectrum of clinical manifestations, including chronic upper and lower respiratory infections, middle ear disease, situs abnormalities, congenital heart defects, and infertility. The development of standardized management plans for pediatric patients with PCD is hindered by the lack of high-quality evidence regarding treatment and follow-up protocols, alongside significant inter-individual variability in disease severity and presentation. Moreover, the diagnosis of PCD is often delayed or missed, limiting timely access to specialized care. This review provides an analysis of the current literature on the follow-up of children with PCD. We reflect on the importance of integrated clinical services and consider the role of PCD services to drive research. We review how patients should be monitored during follow-up, particularly for upper and lower airway disease. We then discuss the importance of educating patients, families, and schools about the condition. We emphasize emerging consensus guidelines for patient monitoring and treatment, and we discuss resources that can support clinical management to improve patient outcomes.