Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood.

Abstract

Objective: Primary ciliary dyskinesia (PCD) is characterized by upper and lower airway disease. Multiple studies have demonstrated the progression of pulmonary disease; however, longitudinal changes in the otologic and nasal symptoms have not been well described in patients. This study defines age-related prevalence, age of onset, and age-related trends in self-reported otologic and sinonasal comorbidities in individuals with PCD.

Study design: A prospective, longitudinal, multicenter, observational study spanning up to 12 years.

Setting: Six PCD centers in North America.

Methods: Inclusion criteria were <19 years of age and a confirmed diagnosis of PCD based on electron microscopy and/or genetics. A standardized medical history questionnaire and physical exam were completed during each study visit. Descriptive statistics were performed for the entire cohort as well as for subgroups based on ciliary ultrastructure.

Results: A total of 147 participants were followed for an average of 7.6 ± 3.2 years. Pressure equalization tubes (PETs) were placed in 80%, transient hearing loss was reported in 68%, and persistent hearing loss was reported in 30%. Hearing aids and speech therapy were utilized by 8% and 27%, respectively. PETs were placed earlier in those with inner dynein arm/microtubular disorganization defects than those with outer dynein arm defects. Participants reported chronic nasal congestion in 97%, sinusitis in 87%, and 35% underwent >1 sinus surgery.

Conclusion: There is a high prevalence of reported otologic and sinonasal morbidity among people with PCD that begins during early childhood and persists. Further analysis is indicated to evaluate differences over time among participants with varying ultrastructural defects.

Level of evidence: Level 2.