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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Rhinosinusitis in Pediatric Primary Ciliary Dyskinesia: Impact of Disease
Jay M Bhatt1, Ethan G Muhonen2, Maxene Meier3
1Children's Hospital Orange County, Orange, California, USA.
Insights
Rhinosinusitis is common in children with primary ciliary dyskinesia (PCD), but most do not need surgery. Careful, symptom-based surgical decisions are recommended for PCD patients with sinus issues.
Area of Science:
- Pediatric Otolaryngology
- Genetics
- Respiratory Medicine
Background:
- Primary ciliary dyskinesia (PCD) is a genetic disorder affecting respiratory cilia and mucociliary clearance.
- Rhinosinusitis is a frequent comorbidity in children with PCD, impacting their quality of life.
Purpose of the Study:
- To assess the prevalence and severity of rhinosinusitis in a pediatric PCD cohort.
- To investigate potential risk factors, including PCD genotype, associated with sinus disease and surgical intervention.
Main Methods:
- Retrospective chart review of 54 children diagnosed with PCD.
- Analysis of demographic, clinical, imaging, and genetic data from an institutional electronic health record system.
- Evaluation of rhinosinusitis severity and need for operative intervention, such as endoscopic sinus surgery (ESS).
Main Results:
- Rhinosinusitis symptoms were present in 85% of subjects, with 22 (41%) diagnosed with chronic rhinosinusitis.
- 19% of subjects underwent surgical intervention (ESS or maxillary lavage), and 19% had adenoidectomy.
- No complications of rhinosinusitis were reported; PCD genotype did not predict the need for ESS or hospitalization.
Conclusions:
- Rhinosinusitis is highly prevalent in pediatric PCD patients, but surgical intervention is not always necessary.
- A conservative, individualized approach to surgical management of rhinosinusitis in PCD is advised, focusing on symptom relief and avoiding complications.
Objectives:
Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by abnormal respiratory cilia ultrastructure and/or function causing defective mucociliary clearance. We investigated the extent and severity of rhinosinusitis in a large cohort of children with PCD and explored associations among risk factors, including genotype and sinus disease.
Study Design:
Retrospective chart review.
Setting:
Tertiary academic children's hospital.
Subjects And Methods:
A review was conducted with a patient registry at the PCD Foundation Center at our institution. Demographic, imaging, clinical, and operative data were reviewed through the institutional electronic health record system.
Results:
Fifty-four subjects were identified with mean and median age at diagnosis of 5.2 and 4.0 years. The male:female ratio was 35%:65%. Sinus symptoms were present in 46 (85%) subjects, 22 of whom had chronic rhinosinusitis. Nineteen (35%) subjects underwent operative intervention, consisting of endoscopic sinus surgery (ESS; 16 patients) and maxillary lavage (3 patients). Nineteen subjects underwent adenoidectomy for PCD-related indications. Five sinus-related admissions in 3 subjects were noted during the study period, and no complication of rhinosinusitis occurred in the cohort. Genetic test results were available in 27 subjects, in whom 23 (85%) had biallelic mutations in a PCD gene. Demographic factors, Lund-Mackay score, and PCD genotype were not found to be predictors for ESS or hospitalization in our cohort.
Conclusion:
While rhinosinusitis was common in our PCD cohort, most patients did not require ESS. Since complications of rhinosinusitis were uncommon, we recommend judicious surgical management tailored to the patient's symptoms.
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