听力学表型在大前庭水管综合征早期诊断中的意义
发布时间：2018-08-07 17:27
【摘要】：目的探讨大前庭水管综合征(LVAS)患者的听力学表型特点以期对LVAS早期诊断作出进一步指导。方法回顾分析63例大前庭水管综合征(LVAS)及8例疑似LVAS患者的病史、听力学及基因学检测结果。结果 LVAS患者中听性脑干反应(ABR)检查者58例,出现特征性的声诱发短潜伏期负反应(ASNR)29例,占总数的50.00%(29/58),负波潜伏期范围在2.56±0.39ms;58例非LVAS的听障患儿作为对照组,其均未发现ASNR;LVAS患者行纯音测听检查者22例(44耳),出现混合性听力下降者10例(20耳),占45.45%(20/44),其中有11耳在低频发现骨气导差,有12耳鼓室压图均为A型,2耳鼓室压图为As型,其中有8耳引出声反射;LVAS患者行SLC26A4基因筛查者26例,纯合突变11例,单杂合突变13例,阴性2例,阳性率92.31%(24/26)。结论大前庭水管综合征具有特征性表现ABR负波和中耳功能正常情况下出现骨气导差,该特征性表现对指导首诊患者进一步明确诊断,预防听力下降有重要意义。
[Abstract]:Objective to investigate the phenotypic characteristics of auditory mechanics in patients with large vestibular aqueduct syndrome (LVAS) in order to provide further guidance for early diagnosis of LVAS. Methods 63 patients with large vestibular aqueduct syndrome (LVAS) and 8 patients with suspected LVAS were analyzed retrospectively. Results among the patients with LVAS, 58 cases were examined with (ABR), 29 cases (50.00%) of the total patients had the characteristic acoustic-evoked short latency (ASNR) (29 / 58). The latency range of negative wave was 2.56 卤0.39 Ms in 58 children with non-LVAS as the control group. There were 22 cases (44 ears) with pure tone audiometry and 10 cases (45.45%) with mixed hearing loss in all patients with ASNRV LVAS. Among them, 11 ears (45.45%) were found to have poor bone gas conductance at low frequency, and 12 cases of tympanograms were type A and 2 ears were as type. Among them, 26 cases were screened for SLC26A4 gene, 11 cases were homozygous mutation, 13 cases were single heterozygosity mutation, and 2 cases were negative. The positive rate was 92.31% (24 / 26). Conclusion the large vestibular aqueduct syndrome has the characteristic ABR negative wave and the bone gas conduction difference under the normal condition of the middle ear function. This characteristic manifestation is of great significance to guide the diagnosis of the first diagnosis and prevent hearing loss.
【作者单位】： 贵州医科大学;贵州省人民医院听力中心;贵州医科大学附属医院耳鼻喉科;
【分类号】：R764
，
本文编号：2170797
[Abstract]:Objective to investigate the phenotypic characteristics of auditory mechanics in patients with large vestibular aqueduct syndrome (LVAS) in order to provide further guidance for early diagnosis of LVAS. Methods 63 patients with large vestibular aqueduct syndrome (LVAS) and 8 patients with suspected LVAS were analyzed retrospectively. Results among the patients with LVAS, 58 cases were examined with (ABR), 29 cases (50.00%) of the total patients had the characteristic acoustic-evoked short latency (ASNR) (29 / 58). The latency range of negative wave was 2.56 卤0.39 Ms in 58 children with non-LVAS as the control group. There were 22 cases (44 ears) with pure tone audiometry and 10 cases (45.45%) with mixed hearing loss in all patients with ASNRV LVAS. Among them, 11 ears (45.45%) were found to have poor bone gas conductance at low frequency, and 12 cases of tympanograms were type A and 2 ears were as type. Among them, 26 cases were screened for SLC26A4 gene, 11 cases were homozygous mutation, 13 cases were single heterozygosity mutation, and 2 cases were negative. The positive rate was 92.31% (24 / 26). Conclusion the large vestibular aqueduct syndrome has the characteristic ABR negative wave and the bone gas conduction difference under the normal condition of the middle ear function. This characteristic manifestation is of great significance to guide the diagnosis of the first diagnosis and prevent hearing loss.
【作者单位】： 贵州医科大学;贵州省人民医院听力中心;贵州医科大学附属医院耳鼻喉科;
【分类号】：R764
，
本文编号：2170797
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