Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. Issue 3 (1st December 2011)

• Record Type: Journal Article
• Authors: Shoemark, A; Dixon, M; Corrin, B; Dewar, A
• Is Part Of: Journal of clinical pathology. Volume 65:Issue 3(2012)
• Page Start: 267
• Page End: 271
• Publication Date: 2011-12-01
• Subjects: Electron microscopy -- ultrastructure -- primary ciliary dyskinesia -- diagnosis -- cilia -- lung -- diagnostics -- electron microscopy -- inherited pathology -- cell biology; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jclinpath-2011-200415
• Languages: English
• ISSNs: 0021-9746

Abstract

Abstract : Background: The examination of ciliary ultrastructure in a nasal sample remains a definitive diagnostic test for primary ciliary dyskinesia (PCD). Methods: The quantitative assessment of ciliary ultrastructure in the diagnosis of PCD over a 20-year period was reviewed. Results: During this period, 1182 patients were referred for ciliary ultrastructural analysis, 242 (20%) of whom were confirmed as having the disease. The two main causes of PCD identified were a lack of outer dynein arms (43%) and a lack of both inner and outer dynein arms (24%). Other causes included transposition, radial spoke and inner dynein arm defects. No specific ultrastructural defects were detected in 33 patients (3%) diagnosed as having PCD on the basis of their clinical features and screening tests that included a low nasal nitric oxide concentration or slow saccharine clearance and abnormal ciliary beat frequency or pattern. Conclusions: Electron microscopy analysis can confirm but does not always exclude a diagnosis of PCD.