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01-03-2014 | OTITIS (DP SKONER, SECTION EDITOR)

Gene Mutations in Primary Ciliary Dyskinesia Related to Otitis Media

Authors: Manuel Mata, Lara Milian, Miguel Armengot, Carmen Carda

Published in: Current Allergy and Asthma Reports | Issue 3/2014

Abstract

Otitis media with effusion (OME) is the most common cause of conductive hearing loss in children and is strongly associated with primary ciliary dyskinesia (PCD). Approximately half of the children with PCD require otolaryngology care, posing a major problem in this population. Early diagnosis of PCD is critical in these patients to minimise the collateral damage related to OME. The current gold standard for PCD diagnosis requires determining ciliary structure defects by transmission electron microscopy (TEM) or clearly documenting ciliary dysfunction via digital high-speed video microscopy (DHSV). Although both techniques are useful for PCD diagnosis, they have limitations and need to be supported by new methodologies, including genetic analysis of genes related to PCD. In this article, we review classical and recently associated mutations related to ciliary alterations leading to PCD, which can be useful for early diagnosis of the disease and subsequent early management of OME.

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Title: Gene Mutations in Primary Ciliary Dyskinesia Related to Otitis Media
Authors: Manuel Mata
Lara Milian
Miguel Armengot
Carmen Carda
Publication date: 01-03-2014
Publisher: Springer US
Published in: Current Allergy and Asthma Reports / Issue 3/2014
Print ISSN: 1529-7322
Electronic ISSN: 1534-6315
DOI: https://doi.org/10.1007/s11882-014-0420-1

Keynote webinar | Spotlight on medication adherence

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Gene Mutations in Primary Ciliary Dyskinesia Related to Otitis Media

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Keynote webinar | Spotlight on medication adherence

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