Upper Respiratory Tract Involvement in Primary Ciliary Dyskinesia: Clinics and Diagnosis

Primary ciliary dyskinesia (PCD) is a rare genetic disease caused by impaired mucociliary clearance activity. Persistent wet cough accompanied by a history of respiratory distress in the neonatal period, persistent rhinitis, chronic middle ear disease, hearing loss, and laterality disorders raises a suspicion for PCD. The diagnosis of PCD is still difficult since no single test is sufficient for a definite diagnosis. Upper respiratory tract symptoms and their prevalence vary in PCD. Nasal congestion, chronic rhinorrhea, nasal polyps, chronic rhinosinusitis, sinus mucocele, sinus hypoplasia, adenoidal hypertrophy, chronic otitis media, conductive hearing loss, vestibular pathologies, and sleep-disordered breathing are upper respiratory tract involvements that can be seen in PCD. The management of these upper respiratory tract conditions is important for quality of life in patients with PCD. Patients with PCD should also be routinely under the control of an ear–nose–throat physician.