河南地区青年和儿童感音神经性聋患者中大前庭水管综合征的临床和基因诊断  

Clinical and genetic diagnosis of large vestibular aqueduct syndrome for young patients suffered from sensorineural hearing loss in Henan Province

作　　者：能玲玲[1] 董明敏[1] 

机构地区：[1]郑州大学第一附属医院耳鼻咽喉科

出　　处：《中华耳科学杂志》2007年第4期380-383,共4页Chinese Journal of Otology

摘　　要：目的通过对我国河南地区35岁以下青年及儿童感音神经性聋患者进行大前庭水管综合征(large vestibul araqueduct syndrome,LVAS)的临床诊断及基因突变热点筛查的分析,来探明这一地区LVAS的患病率,为耳聋防治工作的有效开展奠定理论基础。方法回溯性搜集2005年2月—2007年1月就诊的764例感音神经性聋患者的资料,对先天性耳聋患者、不明原因的进行性波动性听力下降者及与外伤不成比例的严重感音神经性聋患者均进行颞骨CT检查,对137名聋哑患者进行问卷调查,经问卷调查筛选出95名患者抽取血样提取基因组DNA,运用直接测序对突变热点SLC26A4 IVS7-2A>G进行筛查。结果临床诊断结果显示,LVAS患者占总调查人数的13.22%,在各种已知原因的耳聋中居于首位。突变热点筛查结果显示,SLC26A4 IVS7-2A>G在LVAS患者中的突变率为85.71%,与文献报道相似。结论LVAS在青年和儿童感音神经性聋中较为常见,运用高分辨率CT进行轴位颞骨扫描并加强临床医师对LVAS的认识,可减少此病的漏诊。SLC26A4 IVS7-2A>G突变筛查可用于新生儿筛查和产前诊断,以减少耳聋患者出生,指导携带致病基因患儿的行为。Objective To disclose the prevalence of large vestibular aqueduct syndrome（LVAS） in young patients suffered from sensorineural hearing loss in Henan Province through the analysis of clinical diagnosis and gene mutation hot spot screening, thus establishing the foundation for further development of prevention and intervention program for the deafness. Methods A retrospective review of 764 sensorineural hearing loss patients enrolled in the past 2 years （from Feb. 2005 to Jan. 2007） was conducted. Temporal bone CT scans were performwed in the patients with congenital deafness, unidentified fluctuating and progressive hearing loss, and traumatic cases whose severity of hearing loss were not parallel with their trauma. One hundred and thirty-seven deaf children were assessed by means of questionnaires. Genome DNA was extracted from the peripheral blood of 95 deaf children. The mutation hot spot, SLC26A4 IVS7-2 A〉G, was analyzed by direct sequencing. Results The result of clinical diagnosis showed that LVAS accounted for 13.22% of all the patients, which ranked first among the hearing loss patients whose etiological factors were known. The result of mutation hot spot screening showed that the SLC26A4 IVS7-2 A〉G mutation rate in LVAS patients was 85.71%, which was similar to the literature. Conclusion LVAS was common in the young sensorineural hearing loss patients. Using the high-resolution CT scan of the temporal bone and enhancing the clinical doctor’s cognition on LVAS can reduce the missed diagnosis. SLC26A4 IVS7-2 A〉G mutation screening can be applied in newborn screening and prenatal diagnosis. This may help to decrease the birth rate of deaf children and to guide the behavior of children carried with the virulence gene.

关 键 词：大前庭水管综合征 诊断 基因突变 

分 类 号：R764.3[医药卫生—耳鼻咽喉科] R181.26[医药卫生—临床医学]