PT  - JOURNAL ARTICLE
AU  - A Shoemark
AU  - M Dixon
AU  - B Corrin
AU  - A Dewar
TI  - Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia
AID  - 10.1136/jclinpath-2011-200415
DP  - 2012 Mar 01
TA  - Journal of Clinical Pathology
PG  - 267--271
VI  - 65
IP  - 3
4099  - http://jcp.bmj.com/content/65/3/267.short
4100  - http://jcp.bmj.com/content/65/3/267.full
SO  - J Clin Pathol2012 Mar 01; 65
AB  - 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.