以突发听力下降为首发症状的遗传性耳聋病例分析

Hereditary hearing loss presented with sudden deafness

目的探讨以突发性听力下降为首要症状的患者中,遗传性耳聋患者的诊治及转归。方法对我院2011年1月-12月耳内科病房诊治的以突发听力下降为主诉患者,进行了详细的病史和家族史询问,听力学检查,包括纯音测听,声导抗,畸变耳声发射,听觉脑干诱发电位和言语测听;以及影像学检查,包括颞骨CT,颅脑MRI等;根据病史及辅助检查,对高度怀疑遗传性聋的患者施行常见耳聋基因筛查,包括GJB2、SLC26A4和线粒体DNA 12SRNA 1494及1555位点。对3例确诊为不同致病基因的遗传性耳聋患者的临床资料进行系统性分析,归纳总结该病临床特征及转归。结果 3例不同基因致病的患者中,1例为GJB2基因c.109G>A纯合突变,表现为单侧突发听力下降,经治疗后,听力明显改善;1例为SLC26A4基因c.919-2A>G纯合突变导致的大前庭水管综合征,表现为单侧突发听力下降,治疗后听力有效改善;1例为线粒体12S rRNA 1555 A>G突变,表现为双侧突发听力下降,治疗后无改善。结论以突发性下降为首发表现的患者中存在一定比例的遗传性耳聋。对伴有遗传性耳聋可疑因素的患者,在进行治疗的同时,可进行常见致聋基因筛查,以进行早期诊疗。

Objective To study management and prognosis of heieditary hearing loss first presented with sudden deaf- ness. Methods A retrospective analysis was performed in cases presented with sudden deafness from January to December in 2011., Screening of common causative genes, including GJB2,SLC26A4 and mitochondrial 12SRNA 1494 and 1595, was ap- plied in subjects who were suspected to have hereditary hearing loss based on their history, radiological and auxiliary test re- suits. Clinical characteristics and treatment outcomes in 3 patients with confirmed diagnosis of hereditary hearing loss by dif- ferent responsible genes were analyzed. Results In the 3 patients, homozygous mutation c.109G〉A in GJB2 gene was identi- fied in one patient, in whom sudden hearing loss in left ear was significantly improved after medical treatment; homozygous c.919-2A〉G mutation in the SLC26A4 gene was identified in one patient whose sudden hearing loss in left ear was moderately improved after medical treatment; and mitochondrial mutation 12S rRNA 1555 A〉G was identified in the last patient, whose bi- lateral hearing loss also improved after medical treatment. Conclusion Hereditary hearing loss can present with sudden hear- ing loss in some patients. The audiovestibular doctor must use relevant knowledge and consider deafness gene screening in pa- tients in whom hereditary factors are reasonably suspected, for early accurate diagnosis which may guide treatment and im- prove prognosis.