CONGENITAL CYTOMEGALOVIRUS RESEARCH (SCREENING)

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。巨细胞病毒(CMV)是人类最常见的先天性感染，影响大约1%的新生儿。虽然大多数感染CMV的婴儿在出生时没有任何症状，但大约10%的婴儿有严重的症状，高达15%的出生时没有症状的婴儿可能会发展为感音神经性听力损失(SNHL)，可以在童年后期检测到。在出生时有症状的人中，10%将在婴儿时期死亡，据估计，90%的幸存者将患有SNHL、智力低下、认知问题、视力受损、行为问题或脑瘫。最近的证据表明，有神经系统损害的婴儿可以通过静脉注射更昔洛韦来保护或改善他们的听力。治疗组的其他临床参数有所改善，如增加了头部尺寸和体重增加。更昔洛韦(Valganciclovir)的一种口服前药正在评估中，它将避免需要6周的静脉注射。既然已经有了治疗先天性巨细胞病毒的方法，而且有了一种敏感和特异的检测方法来识别先天感染的婴儿(尿壳瓶/培养物)，我们相信筛查这种疾病是一种适当的科学探索。我们建议，在获得家长(S)的知情同意后(目前筛查不是一种可接受的护理标准，因此必须被视为研究)，从约翰霍普金斯医院和约翰霍普金斯海湾医院出生的每个婴儿身上获取一茶匙尿液，这些婴儿在采集样本时年龄不到21天，并且没有喝过血液产品或非母亲母乳。这些尿液将被送往JHH的微生物实验室进行CMV壳小瓶/培养。检测呈阴性的婴儿的父母(S)将不会被联系到。检测呈阳性的婴儿的父母(S)将被要求到PCRU，并将进行标准的检查[病史和体格检查，回顾记录，特别是国家要求的脑干诱发反应(BSER)听力测试，血红素-8与血小板，代谢小组，以及腰椎穿刺术]，以确定孩子是否有症状或无症状，他们的感染(为了研究，将额外抽取1毫升血液和脑脊液进行病毒载量和病毒基因分析)。根据标准工作的结果，将与父母(S)讨论婴儿未来的医疗管理方案，包括中心参与的研究。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Cytomegalovirus (CMV) is the most common congenital infection in humans, affecting roughly 1% of births. While most CMV-infected infants have no symptoms at birth, approximately 10% are severly symptomatic and it is possible that up to 15% of those with no symptoms at birth will develop sensorineural hearing loss (SNHL) detectable later in childhood. Of those who are symptomatic at birth, 10% will die in infancy, and it is estimated that 90% the survivors will have SNHL, mental retardation, cognitive problems, visual impairement, behavioral problems, or cerebral palsy. Recent evidence suggests that infants with neurologic involvement can have their hearing preserved or improved by treatment with IV ganciclovir. Other clinical parameters improved in the treated group such as increased head size and weight gain. A oral prodrug of ganciclovir (valganciclovir) is under evaluation which will avoid the need for 6 weeks of IV access. Now that a therapy is available for congenital CMV and there is a sensitive and specific test for identifying congenitally infected infants (urine shell vial/culture) we believe that screening for this disease is an appropriate scientific inquiry. We propose to obtain, after obtaining informed consent from the parent(s) (screening is not an accepted standard of care at this time so it must be considered research), a teaspoon of urine from every infant born at Johns Hopkins Hospital (JHH) and Johns Hopkins Bayview Hospital (JHBH), who is less than 21 days of age at the time the sample is taken and who has not had blood products or non-maternal breast milk. That urine will be sent to the Microbiology lab at JHH for CMV shell vial/culture. Parent(s) of infants who test negative will not be contacted. Parent(s) of infants who test positive will be asked to come to the PCRU and a standard work up [history and physical, review of records particularly the State required Brain Stem Evoked Response (BSER) hearing test, heme-8 with platelets, metabolic panel, and lumbar puncture] will be done to determine if the child is symptomatic or asymptomatic from their infection (for research an additional ml of blood and CSF will be taken for viral load and genetic analysis of the virus). Based on the outcome of the standard work up, medical management options for the future of the infant will be discussed with the parent(s) including research studies in which the Center is involved.