Diagnosis of primary ciliary dyskinesia: When and how? - 23/11/17
, N. Boehm c, C. Metz-Favre b, I. Koscinski d, M. Teletin d, C. Debry aBienvenue sur EM-consulte, la référence des professionnels de santé.
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Abstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : Primary ciliary dyskinesia, Kartagener syndrome, Immobile ciliary syndrome, Mucociliary clearance, Nasal brushing, Microscopy
Plan
Vol 134 - N° 6
P. 377-382 - décembre 2017 Retour au numéro
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