Insights into sinonasal disease in patients with primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired motile ciliary function, resulting in defective mucociliary clearance and chronic sinopulmonary disease. Although lower airway manifestations are well known, sinonasal disease is often underrecognized or undertreated outside specialist centers, particularly in adults and in settings without routine Ear-Nose-Throat evaluation.

Despite its clinical burden, standardized diagnostic and therapeutic protocols for sinonasal disease in PCD are limited. This review synthesizes current knowledge on the pathophysiology, clinical presentation, diagnostic approaches, and management strategies for sinonasal involvement in PCD based on recent publications. Additionally, the review highlights the burden of disease and its impact on quality of life, role of genotype-phenotype correlations, and the emerging need for disease-specific outcome measures.

Despite growing evidence, diagnosis and management remain inconsistent due to a lack of standardized tools and guidelines. Multidisciplinary care and implementation of validated outcome measures are essential to optimize clinical follow-up and improve quality of life in this population. Future advances in imaging, microbiome profiling, and personalized interventions are needed. Furthermore, defining a standardized criteria for sinonasal exacerbations and integrating upper airway outcomes into clinical studies will be critical for advancing both research and patient care.