Etiology of severe sensorineural hearing loss in children:: Independent impact of congenital cytomegalovirus infection and GJB2 mutations
Etiology of severe sensorineural hearing loss in children:: Independent impact of congenital cytomegalovirus infection and GJB2 mutations
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DOI：
10.1086/511981
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发表时间：
2007-03-15
影响因子：
6.4
通讯作者：
Omori, Koichi
中科院分区：
文献类型：
--
作者：
Ogawa, Hiroshi;Suzutani, Tatsuo;Omori, Koichi
背景感音神经性听力损失（SNHL）是最常见的先天性疾病。对先天性巨细胞病毒（CMV）感染婴儿的纵向研究表明CMV与SNHL之间存在相关性。然而，由于缺乏合适的临床标本，CMV相关SNHL的比例尚未确定，CMV与SNHL的主要遗传原因（如GJB 2基因突变）之间的关系也未确定。分析了67例严重SNHL儿童的CMV和人类疱疹病毒6型（HHV 6）感染以及GJB 2突变。DNA样本是从干燥的脐带中制备的，在日本出生的每个人都可以获得。4例出生时有典型症状感染的患儿作为阳性对照。分别在15%和24%的患者中确定了先天性CMV感染和GJB 2突变。未检出HHV-6。所有CMV相关病例的儿童均在2岁前发生SNHL。结论CMV相关SNHL患儿出生时无明显临床异常，病毒载量低于有症状患儿。先天性CMV感染是严重SNHL的重要原因，其发病率与GJB 2相关SNHL相当。
Background. Sensorineural hearing loss (SNHL) is the most common congenital disease. Longitudinal studies of infants with congenital cytomegalovirus (CMV) infection have demonstrated an association between CMV and SNHL. However, because of the lack of suitable neonatally collected specimens, the proportion of CMV-associated SNHL has not been defined, nor has the relationship between CMV and the major genetic causes of SNHL, such as mutations in the GJB2 gene.Methods. Sixty-seven children with severe SNHL were analyzed for CMV and human herpesvirus 6 (HHV6) infections and for GJB2 mutations. DNA specimens were prepared from dried umbilical cords, which are available for everyone born in Japan. Four children with typical symptomatic infection at birth served as positive control subjects.Results. Congenital CMV infection and GJB2 mutations were identified in 15% and 24% of the patients, respectively. HHV-6 was not detected. All children with CMV-associated cases developed SNHL before they were 2 years old. Most children with CMV-associated SNHL had no obvious clinical abnormality at birth, and their viral loads were lower than those of symptomatic children.Conclusions. Congenital CMV infection is an important cause of severe SNHL, and it has an incidence comparable to that of GJB2-associated SNHL.