Nishio Shin-Ya, Usami Shin-Ichi
a Department of Otorhinolaryngology , Shinshu University School of Medicine , Matsumoto, Nagano , Japan.
Acta Otolaryngol. 2017 Jul;137(7):730-742. doi: 10.1080/00016489.2016.1276303. Epub 2017 Feb 24.
Most of the cases with gene mutations of intra-cochlear etiology showed relatively good CI outcomes. To progress toward more solid evidence-based CI intervention, a greater number of reports including CI outcomes for specific gene mutations are desired.
Cochlear implantation (CI) is the most important and effective treatment for patients with profound sensorineural hearing loss. However, the outcomes of CI vary among patients. One of the reasons of this heterogeneous outcome for cochlear implantation is thought to be the heterogeneous nature of hearing loss. Indeed, genetic factors, the most common etiology in severe-to-profound hearing loss, might be one of the key determinants of outcomes for CI and electric acoustic stimulation (EAS). Patients with genetic causes involving an 'intra-cochlear' etiology show good CI/EAS outcomes.
This review article aimed to summarize the reports on CI/EAS outcomes in patients with special genetic causes as well as to assist in future clinical decision-making. Most of the cases were suspected of an intra-cochlear etiology, such as those with GJB2, SLC26A4, and OTOF mutations, which showed relatively good CI outcomes. However, there have only been a limited number of reports on patients with other gene mutations.
大多数内耳病因基因突变的病例人工耳蜗植入效果相对较好。为了朝着更坚实的循证人工耳蜗植入干预发展，需要更多包含特定基因突变人工耳蜗植入效果的报告。
人工耳蜗植入是重度感音神经性听力损失患者最重要且有效的治疗方法。然而，人工耳蜗植入的效果在患者之间存在差异。人工耳蜗植入这种异质性结果的原因之一被认为是听力损失的异质性。事实上，遗传因素是重度至极重度听力损失最常见的病因，可能是人工耳蜗植入和电声刺激（EAS）效果的关键决定因素之一。涉及“内耳”病因的遗传因素导致的患者人工耳蜗植入/电声刺激效果良好。
这篇综述文章旨在总结特殊遗传病因患者人工耳蜗植入/电声刺激效果的报告，并为未来临床决策提供帮助。大多数病例怀疑存在内耳病因，例如那些携带GJB2、SLC26A4和OTOF基因突变的病例，其人工耳蜗植入效果相对较好。然而，关于其他基因突变患者的报告数量有限。
