Gene Mutations in Primary Ciliary Dyskinesia Related to Otitis Media

Overview

Journal Curr Allergy Asthma Rep

Specialties Allergy & Immunology
Pulmonary Medicine

Date 2014 Jan 25

PMID 24459089

Citations 8

Authors

Manuel Mata

Lara Milian

Miguel Armengot

Carmen Carda

Affiliations

Soon will be listed here.

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.

Citing Articles

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