三种常见耳聋基因突变患者人工耳蜗植入术后效果评估
Evaluation of the Effect of Cochlear Implant in Patients with Deafiness Induced by Different Gene Mutations
仝福临;郭小平;王晋超;再努拉·艾末肉拉;张劲;
1:石河子大学医学院临床医学系
2:新疆维吾尔自治区人民医院耳鼻喉科
3:复旦大学附属华东医院耳鼻喉科





1 Dowell R,Galvin K,Cowan R.Cochlear implantation:optimizing outcomes through evidence-based clinical decisions[J].Int J Audiol,2016,55:1.
2 Lyu J,Kong Y,Xu TQ,et al.Long-term follow-up of auditory performance and speech perception and effects of age on cochlear implantation in children with pre-lingual deafness[J].Chin Med J,2019,132:1925.
3 Pisoni DB,Kronenberger WG,Harris MS,et al,Three challenges for future research on cochlear implants[J].World J Otorhinolaryngol Head Neck Surg,2017,3:240.
4 Park JH,Kim AR,Han JH,et al.Outcome of cochlear implantation in prelingually deafened children according to molecular genetic etiology[J].Ear Hear,2017,38:316.
5 王大华,周慧芳,张静.中文版听觉行为分级对语前聋儿童人工耳蜗植入术后汉语听觉行为评估的研究[J].临床耳鼻咽喉头颈外科杂志,2015,29:441.
6 WasanoK,Takahashi S,Rosenberg SK,et al.Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants[J].Hum Mutat,2020,41:316.
7 赵雪雷,黄丽辉,王雪瑶,等.SLC26A4基因致聋突变患儿的基因型和听力学特点分析[J].临床耳鼻咽喉头颈外科杂志,2018,32:836.
8 Wu CC,Lee YC,Chen PJ,et al.Predominance of genetic diagnosis and imaging results as predictors in determining the speech perception performance outcome after cochlear implantation in children[J].Arch Pediatr Adolesc Med,2008,162:269.
9 Wu CC,Liu TC,Wang XY,et al.Genetic characteristics in children with cochlear implants and the corresponding auditory performance[J].Laryngoscope,2011,121:1287.
10 Chiong CM,Reyes-Quintos MRT,Yarza TKL,et al.The SLC26A4 c.706C>G (p.Leu236Val) variant is a frequent cause of hearing impairment in filipino cochlear implantees[J].Otol Neurotol,2018,39:726.
11 孔颖,梁爽,任寸寸,等.人工耳蜗植入对基因突变致聋儿童康复效果影响的研究[J].临床耳鼻咽喉头颈外科杂志,2015,29:1172.
12 王美兰,马静.GJB2基因突变导致的遗传性耳聋[J].中国听力语言康复科学杂志,2019,17:35.
13 Abdurehim Y,Lehmann A,Zeitouni AG.Predictive value of GJB2 mutation status for hearing outcomes of pediatric cochlear implantation[J].Otolaryngol Head Neck Surg,2017,157:16.
14 陈杰,杨烨,史陆森,等.GJB2相关聋儿人工耳蜗植入后听觉康复效果评估[J].中国耳鼻咽喉颅底外科杂志,2015,21:393.
15 Kim SH,Nepali R,Yoo MH,et al.Long term speech perception outcomes of cochlear implantation in gap junction protein beta 2 related hearing loss[J].J Audiol Otol,2017,21:95.
16 戴溪,马静,林垦,等.耳聋易感基因患儿人工耳蜗植入术后听觉言语能力评估[J].中国听力语言康复科学杂志,2017,15:13.
17 Lu J,Li ZY,Zhu Y,et al.Mitochondrial 12SrRNA variants in 1 642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss[J].Mitochondrion,2010,10:380.
18 Kaheel H,Bress A,Hassan MA,et al,Hassan MA,et al.Frequency of mitochondrial m.1555A > G mutation in Syrian patients with non-syndromic hearing impairment[J].BMC Ear Nose Throat Disord,2018,18:7.