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Updated: Mar 2, 2026
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Diagnosis of primary ciliary dyskinesia: When and how?
J-J Braun1, N Boehm2, C Metz-Favre3
1Service ORL-CCF, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, avenue Molière, 67098 Strasbourg cedex, France; Service de Pneumologie et d'Allergologie, NHC, Hôpitaux Universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg cedex, France.
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.
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