Department of Otolaryngology and Head and Neck Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Department of Otolaryngology and Head and Neck Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Auris Nasus Larynx. 2024 Feb;51(1):82-85. doi: 10.1016/j.anl.2023.07.007. Epub 2023 Aug 10.
Mitochondrial DNA mutations such as A3243G or A1555G are widely reported to cause hearing loss, but few reports exist on the A8296G mutation, which can also cause hearing loss. This report presents the case of a patient with the A8296G mutation and severe bilateral sensorineural hearing loss (SNHL) that progressed over two decades. The patient had no history of diabetes, but did have a family history of SNHL in her father and maternal grandmother. She was first diagnosed with SNHL at 45 years of age, and an A8296G mutation was found. The hearing threshold in the low-frequency range of the right ear was preserved at diagnosis, but eventually declined resulting in severe bilateral hearing loss by the age of 66 years, and cochlear implantation (CI) was performed in the left ear. The hearing threshold three months after CI was 25-45 dB HL, and the phoneme speech discrimination score in the left ear improved from 20% without CI to 74% with CI. SNHL patients with the A8295G mutation are good candidates for treatment with CI.
线粒体 DNA 突变,如 A3243G 或 A1555G,被广泛报道可导致听力损失,但关于 A8296G 突变也可导致听力损失的报道较少。本报告介绍了一例 A8296G 突变患者,该患者患有双侧重度感音神经性听力损失(SNHL),且病情在 20 多年间逐渐加重。该患者无糖尿病病史,但有其父亲和外祖母的 SNHL 家族史。她首次被诊断为 SNHL 的年龄为 45 岁,发现存在 A8296G 突变。诊断时右耳低频听力阈值得以保留,但最终逐渐下降,导致其在 66 岁时出现双侧重度听力损失,遂在左耳进行了人工耳蜗植入(CI)。CI 后 3 个月的听力阈值为 25-45dBHL,左耳的语音辨别率从 CI 前的 20%提高到了 74%。携带 A8296G 突变的 SNHL 患者是 CI 治疗的良好候选者。