结论:大多数具有耳蜗内病因基因突变的病例显示相对良好的CI结果。为了朝着更可靠的基于证据的CI干预迈进,需要更多的报道,包括特定基因突变的CI结局.
背景:人工耳蜗植入(CI)是重度感觉神经性听力损失患者最重要,最有效的治疗方法。然而,CI的结局因患者而异。人工耳蜗植入的这种异质性结果的原因之一被认为是听力损失的异质性。的确,遗传因素,重度至重度听力损失最常见的病因,可能是CI和电声刺激(EAS)结果的关键决定因素之一。具有涉及“耳蜗内”病因的遗传原因的患者显示良好的CI/EAS结果。
方法:这篇综述文章旨在总结具有特殊遗传原因的患者的CI/EAS结局的报道,并为未来的临床决策提供帮助。大多数病例怀疑是耳蜗内病因,例如具有GJB2,SLC26A4和OTOF突变的那些,显示相对良好的CI结果。然而,关于其他基因突变患者的报道数量有限。
CONCLUSIONS: 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.
BACKGROUND: 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.
METHODS: 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.