Primary Ciliary Dyskinesia in Childhood: Study Reveals High Burden of ENT Morbidity

"Over a follow-up of 7.6 years, 80% required pressure equalization tubes, while hearing loss affected 68% transiently and persisted in 30% of cases. Nasal congestion was nearly universal, with 87% experiencing sinusitis and 35% undergoing multiple sinus surgeries," the researchers reported in the journal OTO Open. These findings highlight the critical need for continuous ENT care in managing PCD-related complications.

PCD is a rare genetic disorder affecting the function of motile cilia, leading to impaired mucociliary clearance. This dysfunction results in chronic respiratory issues, including persistent nasal congestion, recurrent ear infections, and progressive hearing loss. Although these symptoms are well-documented, their long-term progression and variability among patients have remained areas of active research.

While the progression of pulmonary disease has been well documented in multiple studies, longitudinal changes in otologic and nasal symptoms in patients remain poorly understood. To fill this knowledge gap, Adam J. Kimple, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA, and colleagues aimed to determine the prevalence, age of onset, and age-related patterns of self-reported otologic and sinonasal comorbidities in individuals with PCD.

For this purpose, the researchers conducted a prospective, longitudinal, multicenter observational study over up to 12 years across six PCD centers in North America. The study included participants under 19 years of age with a confirmed diagnosis of PCD established through electron microscopy and/or genetic testing. During each study visit, a standardized medical history questionnaire and physical examination were performed to track the progression of symptoms. Descriptive statistical analyses were conducted for the entire cohort and subgroups classified based on ciliary ultrastructure, providing insights into the variability of otologic and sinonasal manifestations over time.

The study revealed the following findings:

• One-hundred forty-seven participants were monitored for an average of 7.6 ± 3.2 years.
• Pressure equalization tubes were placed in 80% of cases.
• The transient hearing loss affected 68% of participants, while 30% experienced persistent hearing loss.
• Hearing aids were used by 8% and 27% required speech therapy.
• Those with inner dynein arm/microtubular disorganization defects received pressure equalization tubes earlier than those with outer dynein arm defects.
• Chronic nasal congestion was reported in 97% of participants.
• Sinusitis was observed in 87%, and 35% required more than one sinus surgery.

The researchers identified a high prevalence of persistent otologic and sinonasal complications in children with PCD. Nearly all experienced otitis media and nasal congestion, with early pressure equalization tube placement observed in those with specific ultrastructural defects.

"Emphasizing the need for further study, an international consortium is conducting advanced evaluations to refine diagnostic and management approaches for PCD-related upper airway morbidities," the researchers wrote.

Reference:

Dagher I, Kimple AJ, Ferkol TW, Sagel SD, Dell SD, Milla CE, Li L, Lin FC, Sullivan KM, Zariwala MA, Knowles MR, Rosenfeld M, Leigh MW, Davis SD; Genetic Disorders of Mucociliary Clearance Consortium. Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood. OTO Open. 2025 Feb 21;9(1):e70079. doi: 10.1002/oto2.70079. PMID: 39989621; PMCID: PMC11843728.