Using a bedside test to detect genetic susceptibility to aminoglycoside-induced hearing loss: Has the future arrived?

J Paediatr Child Health. 2023 Jan;59(1):9-11. doi: 10.1111/jpc.16302. Epub 2022 Dec 5.

Abstract

Aminoglycosides are among the most commonly prescribed antibiotics in hospitalised Australian adults and children. A proportion of individuals with an underlying genetic predisposition to aminoglycoside-induced hearing loss (AIHL) can develop bilateral sensorineural hearing loss that is immediate and profound after just a single standard dose of an aminoglycoside. A recent publication described the use of a rapid point-of-care test (POCT) in a neonatal nursery in the United Kingdom for real-time detection of infants at risk of AIHL, in whom exposure to aminoglycosides could then be avoided. This proof of concept study should provide a catalyst for further development of similar assays that would be suitable for Australia's genetically diverse population. The barriers to mitigating the impact of AIHL on Australian children are not primarily technical, but involve a lack of data on the prevalence of the MT-RNR1 mutations in our current neonatal and paediatric populations and intensive care nurseries.

Keywords: aminoglycoside; deafness; genetic; mitochondria; ototoxicity; screening.

MeSH terms

  • Adult
  • Aminoglycosides / adverse effects
  • Anti-Bacterial Agents / adverse effects
  • Australia
  • Child
  • Genetic Predisposition to Disease
  • Hearing Loss* / chemically induced
  • Hearing Loss* / diagnosis
  • Hearing Loss* / genetics
  • Hearing Loss, Sensorineural*
  • Humans
  • Infant
  • Infant, Newborn
  • Mutation
  • Point-of-Care Testing

Substances

  • Aminoglycosides
  • Anti-Bacterial Agents