耳聋基因相关感音神经性聋患儿临床特点分析

发布时间：2018-03-27 12:40

本文选题：耳聋基因　切入点：突变　出处：《听力学及言语疾病杂志》2017年05期

【摘要】：目的探讨GJB2、SLC26A4基因突变相关感音神经性聋患儿的临床表现特点。方法以经耳聋基因芯片及DNA测序确诊为GJB2、SLC26A4基因突变的0~12岁感音神经性聋患儿218例为研究对象,其中GJB2纯合或复合突变患者123例,SLC26A4纯合或复合突变患者95例。分析GJB2、SLC26A4基因突变患儿的发病年龄构成、听力损失程度及颞骨CT影像学特点。结果 (1)发病年龄在婴儿期(0~1岁)、幼儿期(1~3岁)、学龄前期(3~6岁)、学龄期(6~12岁)GJB2、SLC26A4基因突变患儿组的构成比分别为:43.09%、37.40%、14.63%、4.88%和24.2%、44.21%、18.95%、12.63%,两种基因突变组发病年龄构成比差异有统计学意义(P=0.014)。(2)听力损失程度为中、重、极重度的GJB2、SLC26A4基因突变患儿构成比分别为:8.94%、17.89%、73.17%及9.47%、34.74%、55.79%,GJB2基因突变患儿中以极重度听力损失为主,与SLC26A4基因突变患儿听力损失程度构成比差异有统计学意义(P=0.014)。(3)GJB2基因突变组中99.19%(122/123)患儿内耳结构正常,仅一例CT显示双侧内听道狭窄;SLC26A4基因突变组中有95.79%(91/95)患儿颞骨CT显示有前庭水管扩大。结论本组GJB2基因突变感音神经性聋患儿发病年龄以婴儿期居多,以极重度感音神经性聋为主,多不伴内耳畸形;SLC26A4基因突变感音神经性聋患儿发病年龄以幼儿期居多,以重度、极重度感音神经性聋为主,与前庭水管扩大相关内耳畸形密切相关。
[Abstract]:Objective to investigate the clinical features of GJB _ 2o SLC26A4 gene mutation associated sensorineural deafness in children. Methods 218 children with GJB _ 2 / SLC26A4 mutation diagnosed by deafness gene chip and DNA sequencing were selected as subjects. Among the 123 patients with homozygote or compound mutation of GJB2, 95 cases were homozygous or compound mutation of SLC26A4. The age composition of onset of GJB2OSLC26A4 gene mutation was analyzed. Results the age of hearing loss and CT imaging characteristics of temporal bone were 1 year old in infancy, 1 year old in infancy, 3 years old in early childhood, 36 years old in pre-school age, 6 years old in school age, 612 years old in school age. The composition ratio of GJB2OSLC26A4 gene mutation group was 14.634.88% and 24.22.21% and 18.9512.63, respectively. There was significant difference in the age composition ratio of the mutation group (P < 0.014) and the degree of hearing loss was moderate (P < 0.05). The proportions of GJB _ 2 / SLC _ 26A4 gene mutation in children with severe and severe GJB _ 2 gene mutation were: 1.8.94% and 17.89%, 73.17% and 9.477.74% and 55.79% respectively. The most severe hearing loss occurred in children with GJB _ 2 gene mutation. There was significant difference in hearing loss ratio between children with SLC26A4 gene mutation and those with SLC26A4 gene mutation. The inner ear structure was normal in 99.19g / 123GJB2 gene mutation group. There was only one case of bilateral stenosis of the auditory canal on CT in which 95% of 95% of the children had enlarged vestibular aqueduct on CT scan. Conclusion the age of GJB2 gene mutation sensorineural deafness is mostly in infancy. Most of the children without the mutation of SLC26A4 gene had the most severe sensorineural deafness in infancy, and severe and severe sensorineural deafness. And vestibular aqueduct enlargement associated with inner ear deformity is closely related.
【作者单位】：郑州大学第一附属医院耳科;
【基金】：河南医学高新技术发展项目(201203022)
【分类号】：R764.431

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