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Primary ciliary dyskinesia: a review.

Carlén, Birgitta LU and Stenram, Unne LU (2005) In Ultrastructural Pathology 29(3). p.217-220
Abstract
The entity sinusitis, bronchiectasis, and situs inversus is since long named Kartagener syndrome. Nowadays the designation used is primary ciliary dyskinesia (PCD), which implies cilia with decreased or total absence of motility, which may result in sinusitis, chronic bronchitis, bronchiectasis, and male infertility. A large number of deficiencies detectable on the ultrastructural level give rise to PCD. There may also be aberrations not detected up to the present. The normal left-right asymmetry of the body is thought to be due to the beating of the cilia in the embryonic (Hensen's) node. Total immotility of the cilia should therefore result in random asymmetry of the body that is situs inversus in 50% of the cases. It has also been... (More)
The entity sinusitis, bronchiectasis, and situs inversus is since long named Kartagener syndrome. Nowadays the designation used is primary ciliary dyskinesia (PCD), which implies cilia with decreased or total absence of motility, which may result in sinusitis, chronic bronchitis, bronchiectasis, and male infertility. A large number of deficiencies detectable on the ultrastructural level give rise to PCD. There may also be aberrations not detected up to the present. The normal left-right asymmetry of the body is thought to be due to the beating of the cilia in the embryonic (Hensen's) node. Total immotility of the cilia should therefore result in random asymmetry of the body that is situs inversus in 50% of the cases. It has also been claimed that 50% of cases with PCD have situs inversus. However, several deficiencies apparently do not cause total immotility, and all ultrastructural variants are not associated with situs inversus in 50% of the cases. Several of the deficiencies are difficult to detect. Optimal fixation and handling are therefore obligatory. The genetic changes behind the variants are now being studied in several laboratories. Patients with PCD have very low levels of nasal nitric oxide, which is of increasing diagnostic importance. Other established diagnostic methods are the saccharine test and determination of ciliary beat frequency. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
nitric oxide, primary ciliary dyskinesia, left-right asymmetry, cytofila, Kartagener syndrome
in
Ultrastructural Pathology
volume
29
issue
3
pages
217 - 220
publisher
Taylor & Francis
external identifiers
  • wos:000230599600007
  • scopus:22244443066
ISSN
1521-0758
DOI
10.1080/01913120590951220
language
English
LU publication?
yes
id
13303592-ada5-4bee-9c16-90e131e907b5 (old id 141984)
alternative location
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16036877
date added to LUP
2007-07-23 08:08:56
date last changed
2017-07-09 04:29:13
@article{13303592-ada5-4bee-9c16-90e131e907b5,
  abstract     = {The entity sinusitis, bronchiectasis, and situs inversus is since long named Kartagener syndrome. Nowadays the designation used is primary ciliary dyskinesia (PCD), which implies cilia with decreased or total absence of motility, which may result in sinusitis, chronic bronchitis, bronchiectasis, and male infertility. A large number of deficiencies detectable on the ultrastructural level give rise to PCD. There may also be aberrations not detected up to the present. The normal left-right asymmetry of the body is thought to be due to the beating of the cilia in the embryonic (Hensen's) node. Total immotility of the cilia should therefore result in random asymmetry of the body that is situs inversus in 50% of the cases. It has also been claimed that 50% of cases with PCD have situs inversus. However, several deficiencies apparently do not cause total immotility, and all ultrastructural variants are not associated with situs inversus in 50% of the cases. Several of the deficiencies are difficult to detect. Optimal fixation and handling are therefore obligatory. The genetic changes behind the variants are now being studied in several laboratories. Patients with PCD have very low levels of nasal nitric oxide, which is of increasing diagnostic importance. Other established diagnostic methods are the saccharine test and determination of ciliary beat frequency.},
  author       = {Carlén, Birgitta and Stenram, Unne},
  issn         = {1521-0758},
  keyword      = {nitric oxide,primary ciliary dyskinesia,left-right asymmetry,cytofila,Kartagener syndrome},
  language     = {eng},
  number       = {3},
  pages        = {217--220},
  publisher    = {Taylor & Francis},
  series       = {Ultrastructural Pathology},
  title        = {Primary ciliary dyskinesia: a review.},
  url          = {http://dx.doi.org/10.1080/01913120590951220},
  volume       = {29},
  year         = {2005},
}