Diagnosis of primary ciliary dyskinesia: When and how?

Publication date: Available online 11 May 2017
Source:European Annals of Otorhinolaryngology, Head and Neck Diseases
Author(s): J.-J. Braun, N. Boehm, C. Metz-Favre, I. Koscinski, M. Teletin, C. Debry
IntroductionPrimary ciliary dyskinesia (PCD) is a rare congenital disorder involving permanent ubiquitous structural and/or functional ciliary abnormalities.MethodsA single-center retrospective study included 56 cases of PCD (respiratory form) out of a cohort of 280 patients with suspected PCD. The main features of history-taking and clinical examination were analyzed, to formulate a pragmatic diagnostic procedure, easy to implement in clinical practice.ResultsChronic respiratory tract infectious symptoms are sensitive but non-specific for the diagnosis of PCD. Nasal brushing for phase-contrast microscopy study of ciliary morphology and activity proved to be a fast, easy, non-invasive, cost-effective and age-independent diagnostic method. In doubtful cases, depending on local availability, further tests are indicated: nasal nitric oxide level, electronic microscopy, genetic study and cell culture.ConclusionsIn suspected PCD, there being no gold standard method of screening and early diagnosis, nasal brushing with ciliary study is contributive, alongside numerous other complementary tests, on condition that the clinician is experienced and results are interpreted in the light of clinical examination and history-taking.



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