Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia.
J Clin Pathol
; 65(3): 267-71, 2012 Mar.
Article
em En
| MEDLINE
| ID: mdl-22135026
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Kartagener
/
Microscopia Eletrônica de Transmissão
/
Axonema
/
Mucosa Nasal
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Child
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Child, preschool
/
Humans
/
Infant
/
Middle aged
/
Newborn
Idioma:
En
Revista:
J Clin Pathol
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Reino Unido