Respiratory symptoms of Swiss people with Primary Ciliary Dyskinesia

<b>Background:</b> Clinical data on primary ciliary dyskinesia (PCD) are limited and mostly derived from chart reviews, leading to missing and unreliable information on symptoms. The FOLLOW-PCD standardised questionnaire allows for prospective collection of data reported directly from patients and parents of children with PCD. <b>Methods:</b> We sent a questionnaire, based on FOLLOW-PCD, to all patients registered in the Swiss PCD Registry. We assessed the prevalence and severity of respiratory symptoms during the past 3 months. <b>Results:</b> We received a completed questionnaire from 72 out of 92 patients (82%) (age range 3-73 years; median 24). 51 (71%) were adults (≥18 years) and 39 (55%) were female. 68 patients (94%) reported chronic nasal symptoms, mainly runny (67%) or blocked nose (54%) or anosmia (38%). Nasal symptoms persisted all the time in 46 patients (64%). 42 patients (58%) reported ear pain; 9 almost daily. Almost all patients (99%) reported cough, 57 with frequent sputum (79%). Cough was worst during the day in 54 patients (75%) and occurred daily in 53 (74%). Common problems caused by cough were reflux in 11 (15%), vomiting in 7 (10%) and urinary incontinence in 6 (8%) patients. 9 patients (13%) reported frequent wheeze, usually during infections or exercise and 15 patients (21%) reported frequent shortness of breath; 7 even at rest or during daily activities. <b>Conclusion:</b> This is the first study that describes patient reported symptoms in PCD. Repeated standardised clinical data will allow us to better characterize the phenotypic variability of the disease and study disease course and prognosis. Funding: Lung League of Bern, SNF PZ00P3_185923