title: Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia.
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.
authors.affiliation: Royal Brompton and Harefield NHS Trust, London, UK. a.shoemark@rbht.nhs.uk
authors.forename: A
authors.initials: A
authors.lastname: Shoemark
authors.forename: M
authors.initials: M
authors.lastname: Dixon
authors.forename: B
authors.initials: B
authors.lastname: Corrin
authors.forename: A
authors.initials: A
authors.lastname: Dewar
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D054468:Axoneme / Q000648:ultrastructure*; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D009297:Nasal Mucosa / Q000378:metabolism / Q000648:ultrastructure*; D009569:Nitric Oxide / Q000378:metabolism; D011237:Predictive Value of Tests; D011379:Prognosis; D012439:Saccharin; D013997:Time Factors; D055815:Young Adult
chemical_list: D009569:Nitric Oxide; D012439:Saccharin