耳聋基因相关感音神经性聋患儿临床特点分析

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).③GJB2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.

The Clinical Characteristics of Patients with Deafness Gene Related Hearing Loss in Children

Objective To study the age, the degree of hearing loss and the characteristics of inner ear imaging in children with GJB2 and SLC26A4 gene mutation-related deafness.Methods A total of 218 children with GJB2 and SLC26A4 gene mutations were enrolled in this study.Among them, with the combined test of deafness gene chip and DNA sequencing, 123 patients were diagnosed with GJB2 homozygous or complex mutations, and 95 patients were diagnosed with SLC26A4 homozygous or complex mutations.The age of the onset, the degrees of hearing loss and CT features of the temporal bone in children with GJB2 and SLC26A4 mutations were studied.Results The incidence of GJB2 and SLC26A4 gene mutations was 43.09%, 37.40%, 14.63%, 4.88% and 24.2%, 44.21%, 18.95% and 12.63% in the periods of infancy,early childhood,preschool and shoolage,respectively.The age composition of onset in the two groups showed statistical significance(P=0.014).The constituent ratio of children with moderate, severe and extremely severe degrees of hearing loss in the two groups with GJB2 and SLC26A4 gene mutations were 8.94%, 17.89%, 73.17% and 9.47%, 34.74% and 55.79%, respectively.Most of the group with GJB2 gene mutation had profound hearing loss, and the composition ratio of hearing loss degree in SLC26A4 group was statistically significant(P=0.014).99.19% of the children with GJB2 gene mutation group had normal structures of the inner ears.Only one case of CT showed bilateral internal auditory canal stenosis.For 95.79% of the children with SLC26A4 gene mutation, the CT results of the temporal bone were associated with the vestibular aqueduct expansion.Conclusion The onset age of GJB2 gene mutation children is concentrated in the infancy.Most of them are with very severe sensorineural deafness, not associated with the inner ear malformation.The onset age of SLC26A4 gene deafness children is concentrated in the early childhood.Most of them are with severe and extremely sever sensorineural deafness, closely related to vestibular aqueduct expansion and inner ear malformations.