[耳聋基因诊断在评估人工耳蜗植入预后中的价值]
[The value of genetic diagnosis of deafness in evaluating the prognosis of cochlear implantation].
作者信息
Zhang Huimin, Chen Sen, Sun Yu, Kong Weijia
出版信息
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Mar;35(3):274-281. doi: 10.13201/j.issn.2096-7993.2021.03.020.
Abstract
Congenital deafness is known as the most common birth defect, and most sufferers from it manifest sensorineural hearing loss （SNHL）, with hereditary factors responsible for approximately 60% of the cases of deafness. At present, cochlear implantation （CI） is regarded as the most mature and effective solution to treating severe and extremely severe SNHL. However, the outcome of implantation varies due to different genetic factors. With whole genome sequencing advancing, more deafness mutant genes and their types have been identified, which is conducive to clarifying the efficacy of CI in the patients with different mutations for clinical practice. This paper is aimed to summarize the different effects of CI on hereditary deafness and the potential mechanism discovered in recent years, and to clarify the role played by the genetic diagnosis of deafness in evaluating the efficacy of cochlear implantation.
摘要
先天性耳聋被认为是最常见的出生缺陷，大多数先天性耳聋患者表现为感音神经性听力损失（SNHL），其中约60%的耳聋病例由遗传因素导致。目前，人工耳蜗植入（CI）被认为是治疗重度和极重度SNHL最成熟、有效的方法。然而，由于不同的遗传因素，植入效果存在差异。随着全基因组测序技术的发展，更多的耳聋突变基因及其类型被识别出来，这有助于明确CI在不同突变患者中的疗效，为临床实践提供参考。本文旨在总结近年来CI对遗传性耳聋的不同影响及潜在机制，阐明耳聋基因诊断在评估人工耳蜗植入疗效中的作用。
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