Managing upper respiratory tract complications of primary ciliary dyskinesia in children

Primary ciliary dyskinesia (PCD) is a rare and heterogeneous disease that is often misdiagnosed or diagnosed late with more advanced sequelae. PCD primarily effects the respiratory tract, yet most research focuses on the lower respiratory tract manifestations, most of which is derived from research on cystic fibrosis. Little is known about the management of the upper respiratory tract sequelae of PCD. This review summarizes the available evidence for the management of otologic and sinonasal manifestations of PCD.

The natural history of otitis media with effusion and hearing loss in PCD appears to fluctuate into adulthood and does not resolve by the age of 9 years, regardless of treatment, as previously assumed. Ventilation tube insertion improves hearing in PCD, but may lead to a higher rate of otorrhoea when compared with the general population. Sinonasal disease in PCD is poorly studied; however, it appears that patients with chronic rhinosinusitis (CRS) may benefit from long-term macrolide therapy and endoscopic sinus surgery (ESS) in recalcitrant disease. Therapies targeted at improving mucociliary clearance have not been tested specifically in PCD. Pharmacogenetic therapy is currently under investigation to target the primary defect in PCD.

Otologic sequeale in PCD should undergo lifelong evaluation and monitoring and ventilation tube insertion should be considered to avoid complications of chronic hearing loss. Sinonasal disease benefits from macrolide therapy and ESS. Randomized controlled trials of treatment efficacy of the upper respiratory tract manifestations of PCD are lacking.