摘要
目的探讨儿童听力筛查未通过原因及听力基因筛查的意义。方法厦门市入学、入托及小学低年级听力筛查未通过学生共550人,所有儿童均行声导抗、耳声发射检查,5岁及以上儿童进行纯音听阈检查,5岁以下儿童进行行为测听检查,不能配合者进行ASSR检查。基因筛查采用4个基因(GJB2、SLC26A4、12S rRNA和GJB3)15个位点的芯片。结果复测通过151人(27.45%),耵聍及外耳道疾患80人(14.54%),急慢性中耳炎27人(4.91%),分泌性中耳炎287人(52.18%),前庭水管扩大综合征2人(0.36%),先天性胆脂瘤2人(0.36%),感音神经性聋1人(0.18%)。GJB2基因杂合突变携带16人(2.91%),未发现纯合突变或复合杂合突变携带者,SLC26A4基因突变携带15人(2.73%),其中纯合突变2人,未发现复合杂合突变携带者,线粒体12S rRNA基因突变携带1人(0.18%),未发现GJB3基因突变携带者。结论听力和聋病易感基因联合筛查对发现耳聋和迟发性耳聋患者具有协同意义,给予合理干预和正确指导可以降低耳聋的发生率。
Objective To investigate the cause of hearing screening failures and the clinic significance of deafness gene screening in children.Methods Acoustic immittance tests and transiently evoked otoacoustic emission(TEOAE)tests were conducted in 550 kindergarten and primary school age children in Xiamen who were referred after failing hearing screening bilaterally or unilaterally.Children aged 5 years or older also underwent pure tone hearing threshold testing while those under 5 years underwent behavioral audiometry testing.Those who could not cooperate received multiple-frequency auditory steady-state evoked responses(ASSR)testing.Fifteen alleles of 4 genes(GJB2,SLC26A4,12S rRNA and GJB3)were screened.Results One hundred fifty one children(27.45%)passed the second screening.Potential causes for failing screening included cerumen and external auditory canal diseases(n=80,14.54%),acute or chronic otitis media(n=27,4.91%),secretory otitis media(n=287,52.18%),enlarged-vestibular-aqueduct-syndrome(n=2,0.36%),congenital cholesteatoma(n=2,0.36%),and sensorineural hearing loss(n=1,0.18%).There were 16(2.91%)GJB2 carriers,and no homozygous mutation or heterozygous mutation was found;There were 15(2.73%)SLC26A4 carriers,among whom 2 showed homozygous mutation without heterozygous mutation.There was one mitochondrial 12S rRNA mutation(0.18%),and no GJB3 mutation was found.Conclusion Concurrent hearing and deafness genes screening has synergistic significance in detecting deafness and delayed deafness in children.
作者
叶辉
叶伟伟
刘静
王伊梦
YE Hui;YE Weiwei;LIU Jing;WANG Yimeng(Department of Otorhinolaryngology Head and Neck Surgery,Xiamen Haicang Hospital,Xiamen,Fujian,361026)
出处
《中华耳科学杂志》
CSCD
北大核心
2020年第6期1050-1053,共4页
Chinese Journal of Otology
基金
厦门市科技计划医疗卫生项目(3502Z20189051)
厦门市海沧区科技项目(350205Z20174003)。
关键词
耳聋基因
听力筛查
耳聋
Deafness genes
Hearing screening
Deafness
