Bilateral Hearing Loss in Primary Ciliary Dyskinesia: A Study of Conductive and Sensorineural Mechanisms from Pediatric and Adult Cases.

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the respiratory and auditory systems. This study aims to assess the prevalence, type, and severity of bilateral hearing loss (HL) in PCD and Kartagener syndrome (KS) patients, examining age-related differences and chronic impacts of otologic pathologies.

Methods: A total of 19 patients (38 ears), including 6 children and 13 adults, were evaluated from June to September 2021. Comprehensive clinical examinations included otoscopy, tympanometry, and pure tone audiometry (PTA) for air and bone conduction. Tympanometry findings were compared with otoscopic results. Statistical analyses were conducted using SPSS v16.0 (SPSS Inc.; Chicago, IL, USA), with a significance threshold of P ≤ .05.

Results: Hearing loss was identified in 42.1% of patients, with conductive HL predominant in children (3 out of 4), while mixed HL was more common in adults (3 out of 4). Tympanometry results showed 57.9% type A and 42.1% type B findings, correlating with otoscopic observations. Chronic otitis media with effusion (OME) and tympanosclerosis (TS) were the primary pathologies contributing to middle ear damage. Age was significantly correlated with HL severity (P= .005). Mild HL was most common (62.5%), followed by moderate HL (25%) and moderately severe HL (12.5%).

Conclusion: This study identifies distinct age-related patterns in the type and severity of HL among PCD patients, with sensorineural components observed in adults due to progressive middle ear damage. Audiological evaluations are essential for identifying these complications. Further research is needed to optimize treatment approaches and understand the progression of HL in PCD/KS patients.