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Rhinosinusitis, symptomatology & absence of polyposis in children with primary ciliary dyskinesia
M Rollin1, K Seymour, M Hariri
1Department of Otolaryngology/Head & Neck Surgery, Charing Cross Hospital, London, United Kingdom.
Insights
Nasal polyps are not found in children with Primary Ciliary Dyskinesia (PCD), even though they experience chronic rhinosinusitis. Further research is needed to understand this unexpected finding in PCD patients.
Area of Science:
- Pediatric Otolaryngology
- Respiratory Medicine
- Genetics
Background:
- Primary Ciliary Dyskinesia (PCD) is an inherited disorder characterized by defective cilia leading to mucus buildup.
- Common symptoms include recurrent ear infections and chronic sinusitis.
- Nasal polyposis was previously hypothesized to be associated with PCD due to chronic inflammation.
Purpose of the Study:
- To investigate the prevalence of nasal polyps in children diagnosed with PCD.
- To evaluate the association between PCD, chronic rhinosinusitis, and nasal polyposis.
Main Methods:
- A cross-sectional observational study was conducted over 3 months.
- Included children attending a national tertiary-referral PCD clinic.
- Utilized clinical examination and the SNOT-20 questionnaire.
Main Results:
- Thirty children with PCD were included in the study.
- No cases of nasal polyps were observed, despite significant rhinosinusitis symptoms.
- The SNOT-20 questionnaire indicated high symptom burden, particularly in rhinological aspects.
Conclusions:
- Nasal polyps are absent in children with PCD, contradicting previous hypotheses.
- The lack of polyps in the context of chronic mucous stasis warrants further investigation into polyp pathogenesis.
- This finding suggests unique inflammatory pathways in PCD patients.
Introduction:
Primary Ciliary Dyskinesia (PCD) describes a group of inherited disorders which result in functional ciliary defects leading to mucous stasis. Clinical manifestations include otitis media with effusion and chronic rhinosinusitis. Nasal polyposis has previously been thought to be linked to PCD, and current theories of 'polypogenesis' suggest that early and severe polyp formation could be expected among sufferers of this condition.
Methods:
Cross-sectional observational review of all children attending the multi-disciplinary clinic at a national tertiary-referral centre for PCD across a 3-month period. Careful examination was undertaken, and the SNOT-20 questionnaire administered.
Results:
Thirty patients were included. No nasal polyps were found, despite children clearly suffering rhinosinusitis and being debilitated by their symptoms. The rhinologically orientated questions of the SNOT-20 produced the most positive responses; however some other questions were found not to be useful in a paediatric population.
Conclusions:
Nasal polyps do not occur in children with PCD, despite the presence of rhinosinusitis. Given that many current theories of polyp pathogenesis hinge on prolongation of proinflammatory stimuli, further investigations are needed into why this should not occur in the situation of chronic mucous stasis which is the hallmark of PCD.
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