Analysis of archived newborn dried blood spots (DBS) identifies congenital cytomegalovirus as a major cause of unexplained pediatric sensorineural hearing loss
Analysis of archived newborn dried blood spots (DBS) identifies congenital cytomegalovirus as a major cause of unexplained pediatric sensorineural hearing loss
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DOI：
10.1016/j.amjoto.2017.06.002
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发表时间：
2017-09-01
影响因子：
2.5
通讯作者：
Schleiss, Mark R.
中科院分区：
文献类型：
--
作者：
Meyer, Lucy;Sharon, Bazak;Schleiss, Mark R.
目的：先天性巨细胞病毒(CCMV)感染是感音神经性耳聋(SNHL)最常见的非遗传原因。然而，在新生儿期以后，准确诊断CCMV作为SNHL的病因是有问题的。因此，这项研究探讨了在明尼苏达州一家学术医学中心的多学科门诊耳鼻喉科门诊就诊的不明原因SNHL的儿童中，CCMV感染是否可以被回顾性鉴定。方法：在4年的时间里，57名年龄范围为3个月至10岁的不明原因SNHL患者参与了这项研究。获得知情同意后，以CMV UL83基因的一个高度保守的区域为靶点，通过实时荧光聚合酶链式反应(Real-time PCR)检测这些患者的存档干血斑点(DBS)是否存在CCMV感染。结果归一化为NRAS基因对照的恢复。结果：在57例原因不明的SNHL患儿中，15例(26%)的DBS中CMV DNA阳性。在回顾诊断为CCMV的受试者中，观察到平均病毒载量为8.3×10(4)(+/-4.1×10(4))[范围，1×103(-6)×10(5)]拷贝/pGDNA。病毒载量和SNHL的严重程度之间没有统计学意义的相关性。结论：一项回顾性的DBS分析显示，26%的儿童不明原因SNHL患者患有CCMV。DBS检测在CCMV的回顾性诊断中很有用，并可能提供有关SNHL(C)2017 Elsevier Inc.病因的明确诊断信息。保留所有权利。
Purpose: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL). However, accurate diagnosis of cCMV as the etiology of SNHL is problematic beyond the neonatal period. This study therefore examined whether cCMV infection could be identified retrospectively in children presenting with unexplained SNHL to a multidisciplinary diagnostic outpatient otolaryngology clinic at an academic medical center in Minnesota.Methods: Over a 4-year period, 57 patients with an age range of 3 months to 10 years with unexplained SNHL were recruited to participate in this study. Informed consent was obtained to test the archived dried blood spots (DBS) of these patients for cCMV infection by real-time PCR, targeting a highly conserved region of the CMV UL83 gene. Results were normalized to recovery of an NRAS gene control. Chart review was conducted to identify subjects who underwent genetic testing and/or neurodiagnostic imaging to investigate possible genetic, syndromic, or anatomical causes of SNHLResults: In total, 15 of the 57 children with unexplained SNHL tested positive for CMV DNA in their DBS (26%). A mean viral load of 8.3 x 10(4) (+/- 4.1 x 10(4)) [range, 1 x 103(-6) x 10(5)] copies/pg DNA was observed in subjects retrospectively diagnosed with cCMV. No statistically significant correlation was found between viral load and SNHL severity.Conclusions: A retrospective DBS analysis demonstrated that 26% of patients presenting with unexplained SNHL in childhood had cCMV. DBS testing is useful in the retrospective diagnosis of cCMV, and may provide definitive diagnostic information about the etiology of SNHL (C) 2017 Elsevier Inc. All rights reserved.