Mitocondriale
Perdita dell'udito causata dagli antibiotici aminoglicosidi nelle persone portatrici di varianti nel gene mitocondriale MT-RNR1, come m.1555A>G, m.1494C>T o m.1095T>C, che si trasmettono per linea materna.
Cosa cambia con una diagnosi
Le linee guida cliniche (CPIC) raccomandano di evitare gli aminoglicosidi nei portatori, a meno che un'infezione non sia potenzialmente letale e non vi siano alternative sicure; anche i parenti per linea materna potrebbero essere portatori della variante.
Conosciuto anche come
aminoglycoside-induced hearing loss; deafness, mitochondrial, modifier of, mitochondrial; deafness, streptomycin-induced; mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure; mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure; mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure; mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure; mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure; mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure; mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure; mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure; streptomycin ototoxicity
