Is deafness mutation screening required in cystic fibrosis patients?

Rania Abusamra; Donna McShane

doi:10.1016/j.prrv.2016.06.010

Is deafness mutation screening required in cystic fibrosis patients?

Paediatr Respir Rev. 2016 Aug:20 Suppl:24-6. doi: 10.1016/j.prrv.2016.06.010. Epub 2016 Jun 15.

Authors

Rania Abusamra¹, Donna McShane²

Affiliations

¹ Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. Electronic address: [email protected].
² Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

PMID: 27427311
DOI: 10.1016/j.prrv.2016.06.010

Abstract

Aminoglycosides are widely used in cystic fibrosis management. The m.1555A>G mutation predisposes to aminoglycoside ototoxicity. It may cause later onset hearing loss in the absence of aminoglycosides use and gradual hearing loss may be an inevitable consequence of the mutation. Given that aminoglycoside therapy forms the backbone of IV protocols in CF, this article recommends screening for this mutation to allow informed decision-making prior to aminoglycoside administration, to avoid preventable deafness.

Keywords: Aminoglycosides; Cystic fibrosis; Hearing loss; Mitochondrial mutation m.1555A>G..

Publication types

Case Reports

MeSH terms

Adolescent
Aminoglycosides / adverse effects*
Consanguinity
Cystic Fibrosis / drug therapy*
Cystic Fibrosis / genetics*
Cystic Fibrosis / microbiology
DNA Mutational Analysis
Deafness / chemically induced*
Deafness / genetics*
Humans
Male
Mutation / genetics*
Pharmacogenetics

Substances

Aminoglycosides