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首页> 外文期刊>The American journal of otology >Cochlear implantation in a patient with profound hearing loss with the A1555G mitochondrial mutation.
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Cochlear implantation in a patient with profound hearing loss with the A1555G mitochondrial mutation.

机译：具有A1555G线粒体突变的重度听力损失患者的耳蜗植入。

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摘要

OBJECTIVE: This study aimed to describe the performance of a cochlear implant in a patient with profound hearing loss with the A1555G mitochondrial mutation. SETTING: The study was conducted at two university hospitals. PATIENT: A 50-year-old Japanese man in whom bilateral profound hearing loss developed after administration of streptomycin at the age of 23 participated. The pedigree of the family showed exclusively maternal transmission of hearing impairment. INTERVENTION: Genetic study and auditory rehabilitation with a cochlear implant were performed. RESULTS: The A1555G point mutation was identified from the patient's mitochondrial DNA. Since activation of the implant, the patient has been using it successfully with a monosyllable recognition score of 78% using Japanese word lists for speech audiometry. CONCLUSIONS: The current case indicated that cochlear implantation may be a valuable choice of therapy for the patient with profound hearing loss with the A1555G mutation. The excellent auditory performance with a cochlear implant suggests that hearing loss associated with this mutation is primarily caused by insult to the cochlear tissue containing rich mitochondria (i.e., hair cells or stria vascularis or both), not to the cochlear nerve and its central connections.
机译：目的：本研究旨在描述耳蜗植入物在患有A1555G线粒体突变的严重听力损失患者中的性能。地点：这项研究是在两家大学医院进行的。患者：一名50岁的日本男子，在参加链霉素治疗后23岁时双侧深度听力减退。家庭的血统仅显示母亲的听力障碍传播。干预：进行了遗传研究和人工耳蜗的听觉康复。结果：从患者的线粒体DNA中鉴定出A1555G点突变。自植入物激活以来，患者使用日语单词列表进行语音测听，已成功将其以78％的单音节识别率成功使用。结论：当前病例表明，对于患有严重耳聋且伴有A1555G突变的患者，人工耳蜗植入可能是一种有价值的治疗选择。人工耳蜗的出色听觉表现表明，与这种突变相关的听力损失主要是由于侮辱包含丰富线粒体的耳蜗组织（即毛细胞或血管纹或两者兼有），而不是耳蜗神经及其中央连接。

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