Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

Amelia Shoemark (Lead / Corresponding author), M. Dixon, B. Corrin, A. Dewar

Research output: Contribution to journalReview articlepeer-review

75 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)267-271
Number of pages5
JournalJournal of Clinical Pathology
Volume65
Issue number3
Early online date1 Dec 2011
DOIs
Publication statusPublished - 17 Feb 2012

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