Ogawa Hiroshi, Suzutani Tatsuo, Baba Yohko, Koyano Shin, Nozawa Naoki, Ishibashi Kei, Fujieda Kenji, Inoue Naoki, Omori Koichi
National Institute of Infectious Diseases, Tokyo, 162-8640, Japan.
J Infect Dis. 2007 Mar 15;195(6):782-8. doi: 10.1086/511981. Epub 2007 Feb 6.
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.
Sixty-seven children with severe SNHL were analyzed for CMV and human herpesvirus 6 (HHV-6) 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.
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.
Congenital CMV infection is an important cause of severe SNHL, and it has an incidence comparable to that of GJB2-associated SNHL.
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之间存在关联。然而，由于缺乏合适的新生儿期采集的标本，CMV相关的SNHL所占比例尚未明确，CMV与SNHL的主要遗传病因（如GJB2基因突变）之间的关系也未明确。
对67例重度SNHL患儿进行CMV和人疱疹病毒6型（HHV-6）感染以及GJB2基因突变分析。DNA标本取自干燥脐带，日本出生的每个人都可获得此类标本。4例出生时有典型症状性感染的患儿作为阳性对照。
分别在15%和24%的患者中发现先天性CMV感染和GJB2基因突变。未检测到HHV-6。所有CMV相关病例的患儿在2岁前均出现SNHL。大多数CMV相关SNHL患儿出生时无明显临床异常，其病毒载量低于有症状患儿。
先天性CMV感染是重度SNHL的重要病因，其发病率与GJB2相关的SNHL相当。
