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.

Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre

“…Bronchiectasis and atelectasis were characterized according to Kennedy et al, 2007, [15] and rhinosinusitis, according to the European Position Paper on Rhinosinusitis and Nasal Polyps [16]. A partial or total occupation of all sinus, what is known as pansinusitis, was categorized according to the Beguinon et al, 2019, evaluation of PCD patients [17].…”

Registries and collaborative studies for primary ciliary dyskinesia in Europe

“…Data on upper airways from France suggest that adult patients commonly suffer from rhinosinusitis but less frequently from otitis media with effusion. The latter was associated with a worse lung function [77].…”

“…It collects diagnostic information and data from regular follow-ups. RaDiCo-PCD contributes to the iPCD Cohort [30-32, 34, 35], and has reported on sino-nasal disease and fertility [9,77,78]. Currently, RaDiCo-PCD includes 185 patients (80 aged <20 years, 66 aged 20-39 years and 39 aged ⩾40 years).…”

Management der Primären Ciliären Dyskinesie

“…Der langfristige Erfolg der operativen Behandlungsstrategie der NNH ist bei PCD-Patienten nicht nachgewiesen. Erfahrungsgemäß werden viele PCD-Patienten bei ausbleibender Verbesserung der Symptomatik mehrfach operiert [95]. Aufgrund fehlender klinischer Studien können daher OP-Indikationen bei den einzelnen Patienten objektiv nur als "individuelle Heilversuche" betrachtet werden, die auf den persönlichen Erfahrungen der indizierenden Ärzte beruhen.…”