论文部分内容阅读
目的分析伴前庭水管扩大(EVA)的遗传性耳聋患者SLC26A4基因的突变特点,探讨该病行人工耳蜗植入时应注意的问题。方法收集伴有EVA的常染色体隐性遗传性耳聋家系5个,经PCR、DNA直接测序法对SLC26A4基因21个外显子及其侧翼区进行突变检测。5个先证者均经乳突-面隐窝进路行人工耳蜗植入,观察术中改变和术后开机效果。结果在其中一个常染色体隐性遗传家系发现SLC26A4基因的IVS7-2A>G和IVS10-12T>A的复合杂合突变,另一个常染色体隐性遗传家系发现SLC26A4基因的1229C>T和754T>C的复合杂合突变,其中IVS10-12T>A为新发现的突变。术中所有蜗内电极均顺利插入,并经术中阻抗和神经遥测(NRT)测试效果满意,3例发生“脑脊液井喷”,用软组织和耳脑胶封堵耳蜗造孔后停止。术后1月开机均成功并重建听力。结论前庭水管扩大(EVA)患者人工耳蜗植入应注意处理“脑脊液井喷”,防止外淋巴瘘。SLC26A4基因突变是导致该病的分子基础,术前基因诊断对手术有指导作用。
Objective To analyze the mutation characteristics of SLC26A4 gene in hereditary deafness patients with enlarged vestibular aqueduct (EVA) and to explore the issues that should be paid attention to during the cochlear implantation. Methods Five families with autosomal recessive deafness associated with EVA were collected and 21 exons and their flanking regions of SLC26A4 gene were detected by PCR and DNA direct sequencing. Five probands were implanted with cochlear implants through the mastoid-facial crypt approach to observe intraoperative changes and postoperative booting effects. Results In one of the autosomal recessive pedigrees, the compound heterozygous mutation of IVS7-2A> G and IVS10-12T> A of SLC26A4 gene was found. Another autosomal recessive lineage found 1229C> T and 754T> C of SLC26A4 gene Of the compound heterozygous mutation, IVS10-12T> A is a newly discovered mutation. All intracochlear electrodes were successfully inserted during operation, and were satisfied with the results of intraoperative impedance and nerve telemetry (NRT). Three patients had a “cerebrospinal fluid blowout”, and were stopped after cochlear implants were closed with soft tissue and ear glue. January boot after January were successful and reconstruction of hearing. Conclusions Cochlear implants in patients with enlarged vestibular aqueduct (EVA) should pay attention to the treatment of “cerebrospinal fluid blowout” to prevent perilymph fistula. SLC26A4 gene mutation is the molecular basis of the disease, preoperative gene diagnosis of surgery has a guiding role.