CONGENITAL CYTOMEGALOVIRUS RESEARCH (SCREENING)

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。巨细胞病毒（CMV）是人类最常见的先天性感染，影响约1%的新生儿。虽然大多数CMV感染的婴儿在出生时没有症状，但大约10%的婴儿有严重的症状，并且可能高达15%的出生时没有症状的婴儿将在儿童后期发展出可检测到的感音神经性听力损失（SNHL）。在出生时有症状的人中，10%将在婴儿期死亡，估计90%的幸存者将患有SNHL，智力迟钝，认知问题，视力障碍，行为问题或脑瘫。最近的证据表明，有神经系统受累的婴儿可以通过静脉注射更昔洛韦来保护或改善听力。治疗组的其他临床参数有所改善，如头部尺寸增加和体重增加。更昔洛韦（缬更昔洛韦）的口服前药正在评估中，这将避免6周的静脉注射。既然先天性巨细胞病毒的治疗是可用的，并且有一种敏感和特异性的测试来识别先天性感染的婴儿（尿壳瓶/培养），我们认为筛查这种疾病是一种适当的科学探索。我们建议在获得父母的知情同意后，（筛查不是一个公认的标准护理在这个时候，所以它必须被认为是研究），一茶匙的尿液从每一个婴儿出生在约翰霍普金斯医院（JHH）和约翰霍普金斯湾景医院（JHBH），采集样本时年龄小于21天，且未使用过血液制品或非母乳。将尿液送至JHH的微生物学实验室进行CMV壳小瓶/培养。父母（S）的婴儿谁测试阴性将不会被联系。检测呈阳性的婴儿的父母将被要求到PCRU进行标准检查[病史和体格检查，记录审查，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，和腰椎穿刺]，以确定儿童是否有感染症状或无症状（为了研究，将采集额外的ml血液和CSF用于病毒载量和病毒遗传分析）。根据标准检查的结果，将与父母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.