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.

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