Primary ciliary dyskinesia. Clinical presentation and diagnosis

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function. We analyzed the main clinical features and test results of PCD in order to evaluate their usefulness for diagnosis. Retrospective study of 35 cases of PCD evaluated by the same team, with nasal brushings in all cases (special light microscopy) and electron microscopy and/or by isotopic mucociliary clearance study in some. In a cohort of 145 patients with suspected PCD, the diagnosis of PCD was established in 35 cases using a combination of compatible clinical features coupled with the study of nasal brushings: 13 females and 22 males, average age at time of diagnosis 25 years, situs inversus in 12 patients (34%). In the absence of consensus in the literature for diagnosis of PCD, we propose the association of the following diagnostic criteria: upper airway and bronchopulmonary infections beginning often early in the life, more inconstantly situs inversus, familial cases of PCD, consanguinity, infertility and permanent and ubiquitous abnormalities of ciliary structure/function. Nasal brushing with ciliary study (special light microscopy) seems to be an easy and reliable diagnostic criterion. Electron microscopy is necessary for proving ultrastructural abnormalities.