Respiratory symptoms of Swiss people with primary ciliary dyskinesia
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 an...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
European Respiratory Society
2022-04-01
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| Series: | ERJ Open Research |
| Online Access: | http://openres.ersjournals.com/content/8/2/00673-2021.full |
| _version_ | 1797809429143355392 |
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| author | Myrofora Goutaki Leonie Hüsler Yin Ting Lam Helena M. Koppe Andreas Jung Romain Lazor Loretta Müller Swiss PCD Research Group Eva S.L. Pedersen Claudia E. Kuehni |
| author_facet | Myrofora Goutaki Leonie Hüsler Yin Ting Lam Helena M. Koppe Andreas Jung Romain Lazor Loretta Müller Swiss PCD Research Group Eva S.L. Pedersen Claudia E. Kuehni |
| author_sort | Myrofora Goutaki |
| collection | DOAJ |
| description | 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 (86%) out of 86 invited persons or their caregivers (median age 23 years, range 3–73 years), 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 gastro-oesophageal reflux (n=11; 15%), vomiting (n=8; 11%) and urinary incontinence (n=6; 8%). Only nine (12%) participants reported frequent wheeze, which occurred mainly during infection or exercise, while 49 (66%) reported shortness of breath, and 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 to describe 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. |
| first_indexed | 2024-03-13T06:52:36Z |
| format | Article |
| id | doaj.art-50a0f6b9005940c4952a369eca81612f |
| institution | Directory Open Access Journal |
| issn | 2312-0541 |
| language | English |
| last_indexed | 2024-03-13T06:52:36Z |
| publishDate | 2022-04-01 |
| publisher | European Respiratory Society |
| record_format | Article |
| series | ERJ Open Research |
| spelling | doaj.art-50a0f6b9005940c4952a369eca81612f2023-06-07T13:30:08ZengEuropean Respiratory SocietyERJ Open Research2312-05412022-04-018210.1183/23120541.00673-202100673-2021Respiratory symptoms of Swiss people with primary ciliary dyskinesiaMyrofora Goutaki0Leonie Hüsler1Yin Ting Lam2Helena M. Koppe3Andreas Jung4Romain Lazor5Loretta Müller6Swiss PCD Research Group7Eva S.L. Pedersen8Claudia E. Kuehni9 Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland Paediatric Pulmonology, University Children's Hospital Zurich, Zurich, Switzerland Respiratory Medicine Dept, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland Division of Paediatric Respiratory Medicine and Allergology, Dept of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland For a list of the members of the Swiss PCD Research Group, see the Acknowledgements Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland 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 (86%) out of 86 invited persons or their caregivers (median age 23 years, range 3–73 years), 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 gastro-oesophageal reflux (n=11; 15%), vomiting (n=8; 11%) and urinary incontinence (n=6; 8%). Only nine (12%) participants reported frequent wheeze, which occurred mainly during infection or exercise, while 49 (66%) reported shortness of breath, and 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 to describe 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.http://openres.ersjournals.com/content/8/2/00673-2021.full |
| spellingShingle | Myrofora Goutaki Leonie Hüsler Yin Ting Lam Helena M. Koppe Andreas Jung Romain Lazor Loretta Müller Swiss PCD Research Group Eva S.L. Pedersen Claudia E. Kuehni Respiratory symptoms of Swiss people with primary ciliary dyskinesia ERJ Open Research |
| title | Respiratory symptoms of Swiss people with primary ciliary dyskinesia |
| title_full | Respiratory symptoms of Swiss people with primary ciliary dyskinesia |
| title_fullStr | Respiratory symptoms of Swiss people with primary ciliary dyskinesia |
| title_full_unstemmed | Respiratory symptoms of Swiss people with primary ciliary dyskinesia |
| title_short | Respiratory symptoms of Swiss people with primary ciliary dyskinesia |
| title_sort | respiratory symptoms of swiss people with primary ciliary dyskinesia |
| url | http://openres.ersjournals.com/content/8/2/00673-2021.full |
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