Rhinosinusitis in Pediatric Primary Ciliary Dyskinesia: Impact of Disease

Abstract

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.

International consensus statement on allergy and rhinology: rhinosinusitis 2021

“…The exact prevalence of PCRS in patients with underlying conditions such as CF, PCD, or immunodeficiency is unknown but may be higher than in healthy children. Depending on the diagnostic criteria used for PCRS, some studies estimate the incidence of PCRS in children with CF to be 11% to 38%, 38,2321 for children with PCD to be as high as 40%, 39 and for children with CVID to be as high as 36% 40 …”

“…Rhinosinusitis is common in patients with PCD, 39 though overall PCD is a rare cause of PCRS based on its low prevalence. A diagnosis of PCD should be considered in cases of refractory PCRS, particularly with concomitant chronic otitis media.…”

“…One systematic review of intracranial complications in combined pediatric RS (PARS and PCRS) identified risk factors for male gender and adolescent age without discerning between PARS and PCRS 2318 . Case reports and small case series of pediatric CRS highlight extra‐cranial and intra‐cranial complications which are similar to those of PARS, including orbital abscess, frontal bone chronic osteomyelitis (Pott's puffy tumor), mucocele, intracranial abscess, and cavernous sinus thrombosis 39,2363–2365 …”

“…Furthermore, the prevalence in patients with underlying comorbidities may be higher than in healthy children. Several studies estimate the presence of CRS in children with CF, primary ciliary dyskinesia (PCD), and common variable immunodeficiency to be 11% to 38%, 38 40%, 39 and 36%; 40 respectively.…”

Review and Analysis of Research Trends in Surgical Treatment of Pediatric Chronic Sinusitis

“…41 A recent review noted that sinusitis is relatively common in primary ciliary dyskinesia patients, although most did not require ESS, develop complications, or require hospitalization. 42 A systematic review of pediatric patients with this condition found that studies detailing surgical outcomes and validated measure use were sparse and suggested the formulation of a multicenter database to better study chronic sinusitis in this population. 43 A limitation of this study includes the exclusion of non-English abstracts, which could potentially overrepresent the influence of English literature on the topic.…”