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目的分析婴幼儿大前庭水管综合征(LVAS)的听力学和耳聋基因检测结果的特点。方法对38例(76)耳LVAS患儿行DPOAE、声导抗、ABR、ASSR检查,ABR检测分组:1~6月龄组32耳,>6月龄组44耳,对其中15例行SLC26A4基因检测,对各项结果进行分析。结果 ABR结果:1~6月龄组,ABR阈值为轻中度听力损失的有29耳(占90.63%,29/32),重度和极重度有3耳(占9.37%,3/32),>6月龄组,轻中度听力损失的有24耳(占54.55%,24/44),重度和极重度有20耳(占45.45%,20/44)。对53耳轻中度ABR波形图分析得出,53耳均可引出清晰波Ⅲ、Ⅴ,且潜伏期正常,波Ⅰ消失或不能清晰辨认者有41耳(占77.36%)。ASSR结果:听力图为斜坡型(高频下降)有48耳(占63.16%,48/76),平坦型有28耳(占36.84%,28/76)。基因检测结果:10例患儿具有双等位基因突变(纯合或复合杂合突变),9例患儿具有单一的杂合基因突变,突变发现率95.0%(19/20),1例未发现突变,SLC26A4基因IVS7-2A>G突变表现在75.0%的患者携带此突变,占突变总数的71.43%(15/21)。结论小月龄婴幼儿在听力学检查出现特征性表现时,可结合耳聋基因检测以尽早确诊LVAS,对早期发现,早诊断,早预防具有重要意义。
Objective To analyze the characteristics of audiology and deafness gene test results in infants with large vestibular aqueduct syndrome (LVAS). Methods 38 cases (76 ears) LVAS children underwent DPOAE, acoustic conductivity, ABR, ASSR examination, ABR detection group: 1 to 6 months old group of 32 ears,> 6 months old group of 44 ears, of which 15 cases of SLC26A4 Genetic testing, the results of the analysis. Results ABR results showed that the ABR threshold was 29 ears (90.63%, 29/32) with mild to moderate hearing loss, 3 ears (9.37%, 3/32) with severe and very severe, > 6 months old. There were 24 ears (54.55%, 24/44) with mild to moderate hearing loss and 20 ears (45.45%, 20/44) with severe and very severe hearing loss. Analysis of 53 ear light and moderate ABR waveforms showed that 53 ears could lead to clear waves Ⅲ and Ⅴ, and the incubation period was normal. There were 41 ears (77.36%) who disappeared or could not be clearly identified. ASSR results: The audiogram showed that there were 48 ears (63.16%, 48/76) in the slopes (high frequency descent) and 28 ears (36.84%, 28/76) in the flat type. Gene test results: 10 cases of patients with double allele mutation (homozygous or compound heterozygous mutation), 9 cases of children with a single heterozygous mutation, the mutation was found in 95.0% (19/20), 1 case not Found mutations, SLC26A4 gene IVS7-2A> G mutations in 75.0% of patients carrying this mutation, accounting for 71.43% of the total number of mutations (15/21). Conclusion Small-month-old infants with audiological examination showed characteristic features, can be combined with deafness gene detection to early diagnosis of LVAS, early detection, early diagnosis, early prevention is important.