Document Detail

Transmission electron microscopy in the diagnosis of primary ciliary dyskinesia.
MedLine Citation:
PMID:  16553254     Owner:  NLM     Status:  MEDLINE    
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with extensive genetic heterogeneity. Dyskinetic or completely absent motility of cilia predisposes to recurrent pulmonary and upper respiratory tract infections resulting in bronchiectasis. Also infections of the middle ear are common due to lack of ciliary movement in the Eustachian tube. Men have reduced fertility due to spermatozoa with absent motility or abnormalities in the ductuli efferentes. Female subfertility and tendency to ectopic pregnancy has also been suggested. Headache, a common complaint in PCD patients, has been associated with absence of cilia in the brain ventricles, leading to decreased circulation of the cerebrospinal fluid. Finally, half of the patients with PCD has situs inversus, probably due to the absence of ciliary motility in Hensen's node in the embryo, which is responsible for the unidirectional flow of fluid on the back of the embryo, which determines sidedness. PCD, which is an inborn disease, should be distinguished from secondary ciliary dyskinesia (SCD) which is an acquired disease. Transmission electron microscopy is the most commonly used method for diagnosis of PCD, even though alternative methods, such as determination of ciliary motility and measurement of exhaled nitric oxide (NO) may be considered. The best method to distinguish PCD from SCD is the determination of the number of inner and outer dynein arms, which can be carried out reliably on a limited number of ciliary cross-sections. There is also a significant difference in the ciliary orientation (determined by the direction of a line drawn through the central microtubule pair) between PCD and SCD, but there is some overlap in the values, making this parameter less suitable to distinguish PCD from SCD.
Godfried M Roomans; Andrejs Ivanovs; Eyman B Shebani; Marie Johannesson
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Upsala journal of medical sciences     Volume:  111     ISSN:  0300-9734     ISO Abbreviation:  Ups. J. Med. Sci.     Publication Date:  2006  
Date Detail:
Created Date:  2006-03-23     Completed Date:  2006-04-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0332203     Medline TA:  Ups J Med Sci     Country:  Sweden    
Other Details:
Languages:  eng     Pagination:  155-68     Citation Subset:  IM    
Department of Medical Cell Biology, University of Uppsala, Box 571, Uppsala, Sweden.
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MeSH Terms
Cilia / ultrastructure*
Kartagener Syndrome / diagnosis*,  genetics
Microscopy, Electron, Transmission*

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