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首页> 外文期刊>International Journal of Neonatal Screening >Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism?￠????A Clinical Report and Recommendations
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Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism?￠????A Clinical Report and Recommendations

机译：先天性代谢错误双杂合子的关键新生儿筛查-临床报告和建议

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摘要

The practice of newborn screening has been in place in the USA since the 1960s, with individual states initially screening for different numbers of disorders. In the early 2000s many efforts were made to standardize the various disorders being screened. Currently, there are at least 34 disorders that each state is mandated to include on their screening panel. Of those 34 disorders, the majority are inborn errors of metabolism (IEM) which include urea cycle disorders (UCD), citrullinemia (CIT) and argininosuccinic aciduria (ASA), as well as a number of fatty acid oxidation disorders. We present here four cases of infants who had critical newborn screens (NBS) in the Commonwealth of Virginia and underwent genetic testing because their clinical presentation and follow-up laboratory studies were not consistent with the disorder that was flagged by NBS. These newborns were found to be carriers for two different IEMs (in three cases) or compound heterozygotes (in one case). Currently no guidelines exist with respect to the appropriate way to manage these children who may or may not be symptomatic in the newborn period. We propose some general recommendations for management based on our experience with these four probands, and discuss the necessity for further conversation and collaboration between physicians encountering these not-so-infrequent presentations.
机译：自1960年代以来，新生儿筛查已在美国实施，各个州最初都在筛查不同数量的疾病。在2000年代初期，人们为标准化正在筛查的各种疾病做出了许多努力。当前，每个州被要求至少34种疾病包括在其筛查小组中。在这34种疾病中，大多数是先天性代谢错误（IEM），包括尿素循环疾病（UCD），瓜氨酸血症（CIT）和精氨酸琥珀酸尿症（ASA），以及许多脂肪酸氧化疾病。我们在这里介绍了四例在弗吉尼亚州具有严重新生儿筛查（NBS）并接受基因检测的婴儿，因为他们的临床表现和后续实验室研究与NBS所标记的疾病不一致。发现这些新生儿是两种不同IEM（三例）或复合杂合子（一例）的携带者。目前，尚无有关治疗这些可能在新生儿期有症状或可能没有症状的儿童的适当方法的准则。我们根据对这四个先证者的经验为管理提出一些一般性建议，并讨论遇到这些不太常见的演示的医师之间进行进一步对话和协作的必要性。

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