Background: Almost all patients with primary ciliary dyskinesia (PCD) have ear-nose-throat (ENT) symptoms, however, little is known about how the upper airways relate to lung disease. We aimed to study associations between upper and lower respiratory symptoms in patients with PCD. 

Methods: We included patients of the ENT Prospective International Cohort (EPIC-PCD) who completed the FOLLOW-PCD symptoms questionnaire at clinic visit. We studied possible associations of ENT reported symptoms with reported sputum production and shortness of breath (SOB), using logistic regression. In a subgroup with available lung function results, we used linear regression to study associations of ENT symptoms and FEV₁ z-score (Global Lung Function Initiative). All analyses were adjusted for sex and age.

Results: We included 422 patients (median age: 15 years, IQR 9-22; 53% males). 384 patients reported sputum production (91%), and 252 patients (60%) SOB in the past 3 months. Nasal symptoms were associated with sputum production (daily/often: OR 6.3, 95% CI 2.4-16.6; sometimes/rarely: OR 3.4; 95% CI 1.4-8.2), and SOB (daily/often: OR 2.9; 95% CI 1.4-5.9; sometimes/rarely: OR 2.4; 95% CI 1.2-4.9). Headache while bending down was associated with SOB (OR 2.4; 95% CI 1.1-5.6). We found no association between ear and lung symptoms. FEV₁ was available for 273 patients (median z-score: -1.90; IQR -2.89 to -0.68) and was not associated with any reported ENT symptom. 

Conclusion: Reported nasal symptoms were associated with pulmonary symptoms but not with FEV₁. Detailed clinical assessments are needed to understand how upper airway disease relates to lung disease in PCD.

Funding: SNF PZ00P3_185923, BEAT-PCD ERS CRC