Abstract
Background Mostly derived from chart reviews, where symptoms are recorded in a nonstandardised manner, clinical data about primary ciliary dyskinesia (PCD) are inconsistent, which leads to missing and unreliable information. We assessed the prevalence and frequency of respiratory and ear symptoms and studied differences by age and sex among an unselected population of Swiss people with PCD.
Methods We sent a questionnaire that included items from the FOLLOW-PCD standardised questionnaire to all Swiss PCD registry participants.
Results We received questionnaires from 74 out of 86 (86%) invited persons or their caregivers (age range: 3–73 years; median age: 23), including 68% adults (≥18 years) and 51% females. Among participants, 70 (94%) reported chronic nasal symptoms, most frequently runny nose (65%), blocked nose (55%), or anosmia (38%). Ear pain and hearing problems were reported by 58% of the participants. Almost all (99%) reported cough and sputum production. The most common chronic cough complications were gastroesophageal reflux (n=11; 15%), vomiting (n=8; 11%), and urinary incontinence (n=6; 8%). Only 9 participants (12%) reported frequent wheeze, which occurred mainly during infection or exercise, while 49 persons (66%) reported shortness of breath; 9% even at rest or during daily activities. Older patients reported more frequent nasal symptoms and shortness of breath. We found no difference by sex or ultrastructural ciliary defect.
Conclusion This is the first study that describes patient-reported PCD symptoms. The consistent collection of standardised clinical data will allow us to better characterise the phenotypic variability of the disease and study disease course and prognosis.
Footnotes
This manuscript has recently been accepted for publication in the ERJ Open Research. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJOR online. Please open or download the PDF to view this article.
Conflict of interest: Dr. Goutaki reports support for the present manuscript received from Swiss National Science Foundation. Leadership or fiduciary role in other board, society, committee or advocacy group: Co-chair of BEAT-PCD ERS clinical research collaboration and Chair of ERS paediatric epidemiology group, outside the submitted work.
Conflict of interest: Dr. Hüsler has nothing to disclose.
Conflict of interest: Dr. Lam has nothing to disclose.
Conflict of interest: Dr. Koppe has nothing to disclose.
Conflict of interest: Dr. Jung has nothing to disclose.
Conflict of interest: Dr. Lazor has nothing to disclose.
Conflict of interest: Dr. Müller has nothing to disclose.
Conflict of interest: Dr. Pedersen has nothing to disclose.
Conflict of interest: Dr. Kuehni has nothing to disclose.
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- Received November 29, 2021.
- Accepted February 6, 2022.
- Copyright ©The authors 2022
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