聋病基因诊断在评估人工耳蜗植入术预后中的价值

The value of genetic diagnosis of deafness in evaluating the prognosis of cochlear implantation

先天性聋是全球最常见的致残病因,其中遗传性因素约占60%(美国疾病预防控制中心数据)。刘军等(2019)报道全球有近70万听障患者接受了人工耳蜗植入(cochlear implantation,CI),其中我国超过7万例。然而,临床上发现不同遗传学背景患者CI术后的听觉语言康复存在差异,即使同一致聋基因患者CI术后效果亦存在明显差异,上述现象产生的原因尚未完全阐明[1]。

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.