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

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.