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

摘要
目的探讨GJB2、mtDNA12SrRNA及SLC26A4基因突变耳聋患者植入人工耳蜗的效果。方法以双耳极重度感音神经性聋患者187例为研究对象,男98例,女89例,年龄1~7岁,平均3.59±1.64岁;按术前检测基因突变阳性或阴性分为:GJB2组34例,mtDNA12SrRNA组11例,SLC26A4组32例,阴性者为对照组110例;均行单侧人工耳蜗植入,各组患者均于术前进行行为测听,术后1、6、12个月进行行为测听、听觉行为分级(CAP)及言语可懂度分级(SIR)评估,比较各组结果。结果四组患者术后行为听阈均较术前明显改善(P<0.05),但不同基因突变组间差异无统计学意义(P>0.05);CAP及SIR分级均随康复时间的延长而升高(P<0.05),基因突变类型不影响SIR评分(F=1.06,P>0.05),但影响CAP评分(F=10.06,P<0.05),SLC26A4组术后1、6、12个月CAP评分分别为2.03±0.47、3.91±1.03、5.09±0.93分,均优于对照组(分别为1.67±0.49、3.14±1.18、4.20±1.10分)(P<0.05),而GJB2组、mtDNA12SrRNA组与对照组差异无统计学意义(P>0.05);SLC26A4组患者术后1、6、12个月SIR评估分别为1.19±0.74、2.09±0.84、2.69±0.86分,与对照组、CJB2组及mtDNA12SrRNA组差异均无统计学意义(均为P>0.05)。结论本组GJB2.mtDNA12SrRNA及SLC26A4基因突变耳聋患者植入人工耳蜗后均有良好的效果,其中SLC26A4突变患者术后听觉感知能力康复较好;术前行基因检测对于有致聋基因突变的耳聋患者预后判断有一定参考意义。
关键词
耳聋基因;基因突变;人工耳蜗植入;康复
基金项目(Foundation):
作者
仝福临;郭小平;王晋超;再努拉·艾末肉拉;张劲;
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