43例人工耳蜗植入患者基因检测及术后康复效果分析

目的总结川南地区43例人工耳蜗植入患者的基因突变类型，分析其人工耳蜗术后康复效果，了解两者的相关性。方法对43例耳聋患者行GJB2、SLC26A4、mtDNA 12S rRNA基因检测，有基因位点发生致病突变者为耳聋基因检测阳性，归为A组；其余为基因检测阴性，归为B组。两组患者均行单侧人工耳蜗植入术，于术前、术后3、6、12个月行听觉行为分级（categories of auditory performance,CAP）、言语可懂度分级（speech intelligibility rating,SIR）评估。结果43例患者中基因位点发生致病突变者14例（A组）；耳聋基因筛查阴性29例（B组）。A组中9例患者GJB2检测阳性，6例患者SLC26A4检测阳性，其中1例患者GJB2、SLC26A4检测结果均为阳性，两组患者术后1年内不同时间点 CAP 和SIR 评分均较术前明显提高，且评分随着术后时间的延长逐渐提高(P<0.05)，但两组患者术前及术后不同时间点CAP和SIR评分比较均无差异(P>0.05)。结论43例患者中常见致病耳聋基因为GJB2、SLC26A4，人工耳蜗植入术能有效提高患者听力及言语能力，但耳聋基因突变与人工耳蜗植入术后康复效果无明显相关性。

Gene mutation and it’s relationship with rehabilitation effect after cochlear implantation in 43 patients with hearing loss

Abstract:ObjectiveTo explore the types of gene mutation and the rehabilitation effect after cochlear implantation in 43 patients in southern Sichuan, and evaluate their correlation.MethodsGJB2, SLC26A4, and mtDNA 12S rRNA genes were detected in 43 patients with deafness. The patients with disease causing mutations were classified as group A, and those without mutations as group B. Unilateral cochlear implantation was performed in all patients of both groups. Their categories of auditory performance (CAP) and speech intelligibility rating (SIR) were evaluated before surgery and at 3, 6 and 12 months after surgery.ResultsThere were 14 cases in group A (n=14) with a positive rate and 29 in group B (n=29). Of the 14 cases in group A, 9 were positive for GJB2, 6 for SLC26A4, 1 for GJB2 and SLC26A4, and none for mtDNA12SrRNA. The CAP and SIR scores of both groups were significantly improved at different time points within 1 year after operation, and the scores gradually increased with the prolongation of postoperative time (P<0.05). But the differences of both CAP and SIR scores between the two groups at all time points were statistically insignificant (all P>0.05).ConclusionsThe common gene mutations in the 43 patients are GJB2 and SLC26A4. Cochlear implantation can effectively improve their hearing and speech ability. There is no significant correlation between the deafness gene mutation and the rehabilitation effect after cochlear implantation.