Medical Genetics Summaries

Medical Genetics Summaries

Book. 2012

Authors: Pratt V, McLeod H, Dean L, Malheiro A, Rubinstein W

Abstract
Gentamicin is an aminoglycoside antibiotic that is active against gram-negative bacteria. It is administered by injection to treat serious infections caused by susceptible strains of the following microorganisms: Pseudomonas aeruginosa, Proteus species, Escherichia coli, Klebsiella-Enterobacter-Serratia species, Citrobacter species and Staphylococcus species (1). Gentamicin may also be used topically to treat ophthalmic and dermatological infections. There are reports that a single injection of gentamicin may cause hearing loss in individuals who have a variant in the mitochondrial gene MT-RNR1, known as m.1555A>G. Hearing loss is bilateral, usually moderate to profound, and irreversible. Importantly, this occurs in genetically susceptible individuals even in cases where drug levels remain within the therapeutic range. Note that this effect is distinct from “dose-dependent ototoxicity” (damage to the inner ear), which can affect any individual, typically occurring after 5-7 days of aminoglycoside therapy (2). Currently, the FDA-approved drug label for gentamicin does not include a statement about m.1555A>G. However, an American College of Medical Genetics and Genomics (ACMG) guideline includes the following recommendation: “Single-gene testing may be warranted in cases in which the medical or family history, or presentation of the hearing loss, suggests a specific etiology. For example, testing for mitochondrial DNA mutations associated with aminoglycoside ototoxicity may be considered for individuals with a history of use of aminoglycoside antibiotics” (3, 4).

PMID: 28520359

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2ryrsaX
via IFTTT