title: Is deafness mutation screening required in cystic fibrosis patients?
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.
authors.affiliation: Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. Electronic address: r.abusamra@nhs.net.
authors.forename: Rania
authors.initials: R
authors.lastname: Abusamra
authors.affiliation: Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
authors.forename: Donna
authors.initials: D
authors.lastname: McShane
mesh_terms: D000293:Adolescent; D000617:Aminoglycosides / Q000009:adverse effects*; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000188:drug therapy* / Q000235:genetics* / Q000382:microbiology; D004252:DNA Mutational Analysis; D003638:Deafness / Q000139:chemically induced* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010597:Pharmacogenetics
chemical_list: D000617:Aminoglycosides
keywords: Aminoglycosides; Cystic fibrosis; Hearing loss; Mitochondrial mutation m.1555A>G.