先天性巨细胞病毒感染致connexin26基因突变新生儿听力随访及干预
投稿时间:2015-03-30  修订日期:2015-04-20  点此下载全文
引用本文:林海龙,林开春,刘学军,周建,陈益平.先天性巨细胞病毒感染致connexin26基因突变新生儿听力随访及干预[J].医学研究杂志,2015,44(12):75-78,54
DOI: 10.11969/j.issn.1673-548X.2015.12.020
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作者单位E-mail
林海龙 325000 温州医科大学附属第二医院儿童感染科  
林开春 321300 永康市第一人民医院耳鼻咽喉科  
刘学军 325000 温州医科大学附属第二医院耳鼻咽喉科  
周建 321300 永康市第一人民医院儿科  
陈益平 325000 温州医科大学附属第二医院儿童感染科 windflake@aliyun.com 
基金项目:浙江省医药卫生科技项目(2013RCB011);温州市科技计划项目(20140242,Y20140055)
中文摘要:目的调查先天性巨细胞病毒感染新生儿connexin26基因突变,分析其与听力损害的关系,并对新生儿进行听力随访及听力干预。方法筛选温州医科大学附属第二医院及金华永康市第一人民医院60例CMV-DNA阳性新生儿,留取脐血行RT-PCR法检测其connexin26基因mRNA表达情况,对PCR结果送检进行碱基测序,追踪新生儿听力情况,对connexin26基因变异情况及听力检测结果进行相关性分析,并对发生感音性神经性聋(sensorineural hearing loss,SNHL)者进行听力干预,1周岁时评估干预效果。结果在入试新生儿中,总计有39例发生235delC突变,突变者中11例发展为SNHL。相关分析结果显示基因突变和SNHL之间均存在相关性。对发生SNHL婴儿进行听力干预后,仍有少数婴儿听力损害加重,但Gesell评估发现,其语言、社交、适应等能力与正常儿童差异无统计学意义。结论巨细胞病毒感染会新生儿导致connexin26基因突变,并可能进一步导致听力损害,在发生SNHL以后,积极进行听力干预可以保证其正常语言、社交等能力的发展。
中文关键词:巨细胞病毒  新生儿  connexin26基因  感音性神经性聋
 
Hearing Follow-up and Intervention for Congenital Cytomegalovirus Infected Neonates with Connexin26 Gene Mutation.
Abstract:Objective Investigate congenital cytomegalovirus infection in neonates with Connexin26 gene mutation, and analyze its relationship with hearing impairment, implemented hearing follow-up and intervention on SNHL infants. Methods Sixty CMV-DNA positive newborn from The Second Affiliated Hospital of Wenzhou Medical University and The first people's Hospital of Yongkang were included in this study, remained the umbilical cord blood to detect the connexin26 gene expression of mRNA with RT-PCR, PCR results for sequencing, tracked the newborn hearing, analyze the correlations between the mutation of connexin26 gene and listening test results. Hearing intervention was proceeded on the occurrence of sensorineural hearing loss infants, evaluated the intervention effect of 1 years old. Results In all of the newborns, a total of 39 cases had 235delC mutation, 11 cases in the mutations for the development of SNHL. The results of correlation analysis showed that there was correlation between gene mutation and hearing impairment. On the occurrence of SNHL infant hearing intervention, there were still a few infants hearing impairment aggravating, but Gesell assessment found that its language, social contact and adaptation ability conpare to normal children with no significant difference in statistics. Conclusion Cytomegalovirus infection in neonates can lead to mutations in the connexin26 gene, and may further lead to hearing loss, in the event of SNHL, active listening intervention can guarantee the normal development of the language and social ability.
keywords:Cytomegalovirus  Neonate  Connexin26 gene  Sensorineural hearing loss
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