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.
- Electron microscopy
- primary ciliary dyskinesia
- electron microscopy
- inherited pathology
- cell biology
Statistics from Altmetric.com
Funding The PCD service is currently supported by the Advisory Group for National Specialised Services (AGNSS). Together with units in Leicester and Southampton, it provides a national diagnostic service for PCD.
Competing interest None declared.
Ethics approval The study is an audit/review of a diagnostic service and no interventions were performed.
Provenance and peer review Not commissioned; externally peer reviewed.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.