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

Emilie Bequignon,Virginie Escabasse,Francoise Zerah-Lancner,Marie Devars Du Mayne,Bernard Maître,Isabelle Honoré,Laurence Dupuy,André Coste,Bruno Crestani,Laurence Bassinet,Marie Legendre,Estelle Escudier,Jean-François Papon

doi:10.3390/jcm8050619

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.

Highlights

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive inherited disorder affecting approximately 1:10,000 to 1:30,000 individuals [1]
Transmission electron microscope (TEM) analysis was performed in 62 patients and ultrastructural defect was identified in 90.3% of them
Molecular analysis was available in 58 patients and causal biallelic mutations in a known primary ciliary dyskinesia (PCD) gene were identified in 77% of them

Summary

Introduction

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive inherited disorder affecting approximately 1:10,000 to 1:30,000 individuals [1]. The pathophysiology of PCD is characterized by defects in airway mucociliary clearance, predisposing affected individuals to recurrent respiratory infections and leading to symptoms typically present since birth [2]. Half of sufferers have situs inversus (SI) [3,4] and a majority of male patients are infertile [5]. One subgroup of patients with PCD have an array of chronic rhinosinusitis, bronchiectasis, and SI, called Kartagener syndrome (KS). Otologic presentation has been well described in children [4,6,7]. Some authors have reported nonspecific rhinological symptoms such as nasal discharge and episodic facial pain resulting in chronic rhinosinusitis [3]. Hypoplasia and agenesis of paranasal sinus have been described

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