Diagnosis of primary ciliary dyskinesia: When and how? - Ecole Nationale du Génie de l'Eau et de l'Environnement de Strasbourg Accéder directement au contenu
Article Dans Une Revue European Annals of Otorhinolaryngology, Head and Neck Diseases Année : 2017

Diagnosis of primary ciliary dyskinesia: When and how?

Résumé

Introduction: Primary ciliary dyskinesia (PCD) is a rare congenital disorder involving permanent ubiquitous structural and/or functional ciliary abnormalities. Methods: A 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. Results: Chronic 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. Conclusions: In 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. Keywords: Immobile ciliary syndrome; Kartagener syndrome; Microscopy; Mucociliary clearance; Nasal brushing; Primary ciliary dyskinesia.

Dates et versions

hal-03677827 , version 1 (24-05-2022)

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Jean-Jacques Braun, Nelly Boehm, Carine Metz-Favre, Isabelle Koscinski, Marius Teletin, et al.. Diagnosis of primary ciliary dyskinesia: When and how?. European Annals of Otorhinolaryngology, Head and Neck Diseases, 2017, 134 (6), pp.377-382. ⟨10.1016/j.anorl.2017.04.001⟩. ⟨hal-03677827⟩
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