人工耳蜗植入后的疗效观察及大前庭水管综合征患者基因型和听力表型的相关性研究

发布时间：2019-04-12 19:19

【摘要】：耳聋是导致言语交流障碍的常见疾病，是最常见的出生缺陷之一。遗传性因素在耳聋致病因素中占60%。随着分子遗传学的发展，越来越多的先天性耳聋找到了分子水平的致病因素。本研究分两部分探讨聋病患者的基因型与听力学表型的相关性，以期更充分地利用遗传学研究的成果，指导临床诊疗，并为更进一步地研究聋病发生发展的病理过程提供依据。第一部分：人工耳蜗植入后的疗效观察目的：比较携带致聋基因突变的遗传性聋患者人工耳蜗植入后的疗效。方法：对携带不同致聋基因突变的人工耳蜗植入患者进行疗效评估，测试内容包括：声场助听听阈测试、婴幼儿有意义听觉整合量表/有意义听觉整合量表评分（IT-MAIS/MAIS）、听觉行为分级标准评分(CAP)、言语可懂度分级标准评分(SIR)及普通话早期言语感知测试(MESP)。结果：GJB2基因突变和SLC26A4基因突变致聋患者人工耳蜗植入后的疗效与对照组无显著差异。结论：GJB2基因突变和SLC26A4基因突变致聋患者适于行人工耳蜗植入手术，术后效果满意。第二部分：大前庭水管综合征患者基因型和听力表型的相关性研究目的：探讨大前庭水管综合征相关基因型与听力学表型的相关性。方法：收集经高分辨率CT扫描确认存在EVAS的患者，进行SLC26A4基因基因全序列检测，并进行常规听力学评估，，比较分析其相关性。结果：SLC26A4基因全序列检测共发现124种致病突变类型，主要基因型为为IVS7-2AG纯合，IVS7-2AG杂合，2168AG纯合，2168AG杂合，IVS7-2AG/2168AG复合杂合突变。与听力学表型具有一定的相关性。结论：SLC26A4基因与伴有前庭导水管扩大的大前庭水管综合征关系密切。
[Abstract]:Deafness, one of the most common birth defects, is one of the most common disorders of speech communication. Hereditary factors account for 60% of the causes of deafness. With the development of molecular genetics, more and more congenital deafness have found molecular-level pathogenic factors. This study is divided into two parts to explore the relationship between genotype and audiological phenotype of deaf patients, in order to make full use of the results of genetic research, to guide clinical diagnosis and treatment, and to provide basis for further study of the pathological process of the occurrence and development of deaf disease. Objective: to compare the efficacy of cochlear implantation in patients with hereditary deafness with deafness gene mutation. Methods: the efficacy of cochlear implant with different deafness gene mutations was evaluated. Meaningful auditory Integration scale / meaningful auditory Integration scale (IT-MAIS/MAIS), auditory behavior rating scale (CAP), speech Intelligibility rating scale (SIR) and early speech perception Test in Putonghua (MESP).) Results: there was no significant difference in the efficacy of cochlear implantation in patients with deafness caused by GJB2 gene mutation and SLC26A4 gene mutation compared with the control group. Conclusion: the patients with deafness caused by GJB2 gene mutation and SLC26A4 gene mutation are suitable for cochlear implantation and the postoperative results are satisfactory. Part two: correlation between genotype and auditory phenotype in patients with large vestibular aqueduct syndrome objective: to investigate the correlation between genotype and audiological phenotype in patients with large vestibular aqueduct syndrome. Methods: the patients with EVAS confirmed by high resolution CT scanning were collected, and the SLC26A4 gene sequence was detected and evaluated by conventional audiology, and the correlation was analyzed. Results: a total of 124 mutation types were found in the SLC26A4 gene. The main genotypes were IVS7-2AG homozygous, IVS7-2AG heterozygous, 2168AG homozygous, 2168AG heterozygous and IVS7-2AG/2168AG complex heterozygous mutation. There is a certain correlation between the phenotype of auditory mechanics and the phenotype of auditory mechanics. Conclusion: SLC26A4 gene is closely related to large vestibular aqueduct syndrome with dilated vestibular aqueduct.
【学位授予单位】：中国人民解放军医学院
【学位级别】：博士
【学位授予年份】：2014
【分类号】：R764.43

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