Intérêt du prélèvement nasal pour le diagnostic des dyskinésies ciliaires primitives de l’enfant

Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder, characterized by chronic infections of the upper and lower airways, associated in 50% of cases with situs inversus, therefore, corresponding to Kartagener's syndrome. PCD is suspected on clinical features, including bronchitis, rhinosinusitis and chronic otitis media beginning in early childhood. The recurring infections eventually lead to bronchiectasis. The clinical features of PCD have been ascribed to primary defects in cilia, which lead to impairment of mucociliary clearance. Ciliary investigations looking for abnormalities in ciliary motion and ultrastructure can be easily performed at nasal level. Quantitative ultrastructural study of cilia is performed in cases of abnormal ciliary motion and/or clinical symptoms highly suggestive of PCD. In PCD, all or most of the cilia are abnormal, all bearing the same ultrastructural defects, mainly concerning dynein arms. In older children, the detection of a very low nasal NO output could also be useful for the diagnosis of PCD. As soon as the ciliary investigations are easy to perform at the nasal level, they could help for a better detection of PCD. This strategy could be especially useful in cases of atypical presentations, which are underestimated as a cause of recurrent airway infections. Diagnosis of PCD is important in order to prevent the development of bronchiectasis and to avoid any unnecessary procedure.