The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Primary ciliary dyskinesia: a review.

På svenska

Author

  • Birgitta Carlén
  • Unne Stenram

Summary, in English

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.

Publishing year

2005

Language

English

Pages

217-220

Publication/Series

Ultrastructural Pathology

Volume

29

Issue

3

Document type

Journal article

Publisher

Taylor & Francis

Topic

  • Cancer and Oncology

Keywords

  • nitric oxide
  • primary ciliary dyskinesia
  • left-right asymmetry
  • cytofila
  • Kartagener syndrome

Status

Published

ISBN/ISSN/Other

  • ISSN: 1521-0758