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.

Links

Publisher Full Text

Authors

Shoemark A, Dixon M, Corrin B, Dewar A

Institution

Royal Brompton and Harefield NHS Trust, London, UK. a.shoemark@rbht.nhs.uk

Source

Journal of clinical pathology 65:3 2012 Mar pg 267-71

MeSH

Adolescent
Adult
Aged
Aged, 80 and over
Axoneme
Biopsy
Child
Child, Preschool
Cilia
Humans
Infant
Infant, Newborn
Kartagener Syndrome
Microscopy, Electron, Transmission
Middle Aged
Nasal Mucosa
Nitric Oxide
Predictive Value of Tests
Prognosis
Saccharin
Time Factors
Young Adult

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22135026