对大前庭水管综合征的基因、影像学诊断研究  

Diagnosis of large vestibular aqueduct syndrome by genetic detection and imaging examination

作　　者：马新春[1] 郭斌[1] 徐聪 张英[1] MA Xin-Chun;GUO Bin;XU Cong;ZHANG Ying(Otolaryngology Of Qing Hai University Affiliated Hospital, QingHai Xining 810001)

机构地区：[1]青海大学附属医院耳鼻咽喉科,青海西宁810001

出　　处：《中国高原医学与生物学杂志》2019年第1期26-29,共4页Journal of Chinese High Altitude Medicine & Biology

基　　金：青海省卫计委基础研究科研项目(2016-wjzdx-64)

摘　　要：目的探讨SLC26A4基因突变检测及颞骨高分辨率CT检查对诊断大前庭水管扩大综合征的一致性。方法选取216例人工耳蜗植入的患者作为研究对象,所有患者均行颞骨高分辨率CT检查及基因SLC26A4(2168A>G,IVS7-2A>G)检测。结果通过两种诊断方法得出大前庭水管扩大综合征的检出率具有一致性(Kappa=0.952)。影像学检查提示在216例患者中,前庭水管扩大者39例;基因检测结果提示基因突变者36例,其中两位点(2168A>G、IVS7-2A>G)的杂合突变16例,纯合突变18例,复合杂合突变2例。结论 SLC26A4基因突变检测与颞骨高分辨率CT检查对诊断大前庭水管扩大综合征具有良好的一致性;基因检测对于可疑前庭水管扩大综合征患者可做到早发现、早诊断、早预防。Objective To explore the consistency of SLC26A4 gene mutation detection and temporal bone high resolution CT in diagnosing large vestibular aqueduct syndrome.Methods 216 patients with cochlear implants were selected as the research objects.All patients underwent the high resolution CT in temporal bone and detect SLC26A4 gene on common sites 2168A>G and IVS7-2A>G.Results Two diagnostic methods were used to find that there was consistency in the detection rate of Large vestibular aqueduct syndrome(Kappa=0.952). Imaging examination showed that 39 cases of vestibular water tube enlarged in 216 patients.The results of genetic test showed 36 cases of gene mutation,including 16 cases of heterozygous mutation at two sites(2168A>G and IVS7-2A>G), 18 cases of homozygous mutation and 2 cases of compound heterozygous mutation. Conclusions The two methods have good consistency in the diagnosis of large vestibular aqueduct syndrome.SLC26A4 gene mutation detection and high resolution CT examination of the temporal bone have good consistency in the diagnosis of Large vestibular aqueduct syndrome. Gene chip detection can be done for early detection, early diagnosis and early prevention of patients with suspected mutation.

关 键 词：前庭导水管扩大综合征 影像学 责任基因 

分 类 号：R764[医药卫生—耳鼻咽喉科]