Sleep-Disordered Breathing in Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder marked by impaired mucociliary clearance, chronic upper and lower airway infections, and progressive bronchiectasis. Sleep-disordered breathing (SDB) has emerged as an under-recognized comorbidity in this population.

This review synthesizes current evidence on the prevalence, pathophysiology, diagnostic approaches, and management of SDB in PCD across pediatric and adult cohorts.

Reported prevalence of obstructive sleep apnea (OSA) in PCD ranges widely from ~33% to 100%, markedly exceeding general population norms; however, one large recent pediatric cohort reported a much lower prevalence (~1.2%), indicating that true disease magnitude remains uncertain. Upper-airway abnormalities (chronic rhinosinusitis, nasal polyposis, adeno-tonsillar hypertrophy) are almost universal in PCD, while lower-airway disease and ventilation-perfusion mismatch contribute to nocturnal hypoxemia even in the absence of apneas. Polysomnography (PSG) remains the diagnostic gold standard; subjective questionnaires (e.g., PSQI, SDSC, ESS) show poor correlation with PSG metrics in PCD. Sleep architecture is typically preserved, but sleep efficiency is mildly reduced and arousal indices are elevated, indicative of fragmented yet largely restorative sleep. Psychological and neurocognitive sequelae, including anxiety, depressive symptoms, and attention deficits, may be seen and are associated with SDB in PCD. First-line management focuses on optimization of the upper-airway (adenotonsillectomy, nasal irrigation, intranasal corticosteroids), while residual SDB may necessitate positive airway pressure (PAP) therapy. Optimizing lung function and infection control may further improve nocturnaloxygenation.

SDB in PCD represents a multifactorial and potentially modifiable contributor to disease burden. Incorporating sleep assessment into routine PCD care and fostering multicenter, genotype-informed research are imperative to enhance early recognition, management, and quality-of-life outcomes.