Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia

Abstract

To date, no study precisely described ear, nose and throat (ENT) disease in adults with primary ciliary dyskinesia (PCD) and its relationship with ciliary function/ultrastructure. A retrospective study of standardized ENT data (exam, audiogram, sinus Computed tomography (CT), and bacteriology) was conducted in 64 adults with confirmed PCD who were followed in two ENT reference centers. Rhinorrhoea and hearing loss were the main symptoms. Symptom scores were higher in older patients. Nasal endoscopy was abnormal in all patients except one, showing nasal polyps in one-third of the patients and stagnant nasal mucus secretions in 87.5% of the patients. Sinus CT opacities were mainly incomplete and showed one-third of the patients with sinus hypoplasia and/or agenesis. Middle meatus mainly grew Haemophilus influenzae, Streptoccocus pneumoniae and Pseudomonas aeruginosa. Otitis media with effusion (OME), which is constant in childhood, was diagnosed in less than one-quarter of the patients. In two-thirds of the patients, audiogram showed hearing loss that was sensorineural in half of the patients. ENT disease severity was not correlated with ciliary function and ultrastructure, but the presence of OME was significantly associated with a forced expiratory volume (FEV1) < 70%. Rhinosinusitis is the most common clinical feature of PCD in adults, while OME is less frequent. The presence of active OME in adults with PCD could be a severity marker of lung function and lead to closer monitoring.

Keywords: Kartagener syndrome; airway mucociliary clearance; chronic rhinosinusitis; otitis media with effusion; primary ciliary dyskinesia.

Figure 1

Distribution of nasal symptoms score according to the age and ciliary abnormalities. Abbreviations: CC = central complex abnormalities; DA = dynein arms abnormalities.

Figure 2

Typical nasal endoscopy and sinus computed tomography (CT) scan in an adult with primary ciliary dyskinesia PCD. (A) Typical nasal endoscopy (right side): secretions were sticky and thick, strung between the septum (S) and the inferior turbinate (IT). In a typical form, we observe oedema and congestive mucosa with or without polyps. (B) Sinus CT scan axial view: partial opacities of ethmoid cells. (C) Sinus CT scan coronal view: maxillary sinus hypoplasia. (D) Sinus CT scan axial view: frontal sinus agenesis.