Introduction
Primary ciliary dyskinesia (PCD) is a heterogeneous inherited ciliopathy characterized by impaired airway mucosal clearance. The disease mainly presents with recurrent upper and lower respiratory tract infections (LRTI) and their complications.1,2 Situs inversus or infertility may accompany the clinical picture. Due to the low incidence and undiagnosed mild cases, the accurate prevalence is unclear, but is estimated from 1:40,000 to 1:7,550.3 Although there is no gold standard diagnostic test, nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVA), transmission electron microscopy (TEM) and genetic tests are used for diagnosis.4,5 The European Respiratory Society task force recommends exploring PCD in patients with persistent wet cough, situs or congenital heart anomalies, persistent rhinitis, chronic otitis, or neonatal respiratory morbidities.6
It is well known that otorhinolaryngological manifestations such as chronic or recurrent rhinosinusitis, middle ear infections, otitis media with effusion are quite common in PCD patients.7–9Accordingly, permanent hearing loss, vestibular and balance impairments have also been shown.10,11 However, although pulmonary diseases are well defined in these patients, the data in the field of otolaryngology are not satisfactory. Pieces of knowledge are inconsistent because ear-nose-throat (ENT) studies are mostly single-center, retrospective, non-standardized, and have a small number of patients.12 Recently, the study protocol of the first international, prospective ENT cohort in PCD patients was published and the study is ongoing now.13 The aim of our study was to determine the prevalence of sinonasal and otological disorders in the PCD cohort of 121 patients and to reveal the ENT findings with associated clinical and demographic factors.