미토콘드리아
모계를 통해 대물림되는 미토콘드리아 MT-RNR1 유전자의 변이(m.1555A>G, m.1494C>T, m.1095T>C 등)를 지닌 사람에게서 아미노글리코시드계 항생제로 인해 발생하는 청력 손실입니다.
진단이 달라지는 점
임상 지침(CPIC)에서는 감염이 생명을 위협하고 안전한 대체 치료법이 없는 경우가 아니라면, 이 변이를 지닌 사람에게 아미노글리코시드계 항생제를 피할 것을 권장합니다. 모계 친척도 이 변이를 지니고 있을 수 있습니다.
다른 명칭
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
