Newborn screening for lipid disorders.

IF 3.8 3区 医学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
Current opinion in lipidology Pub Date : 2024-06-01 Epub Date: 2024-02-26 DOI:10.1097/MOL.0000000000000928
Xiangqiang Shao, Robert Steiner, Amy L Peterson
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引用次数: 0

Abstract

Purpose of review: Newborn screening is one of the most successful public health programs of the last century and offers unparalleled access to universal screening for a variety of metabolic and other disorders. Interest in development of newborn screening for lipid disorders has intensified in recent years. Screening newborns for lipid disorders has important implications for the health of the newborn as well as their relatives, and in the case of more common lipid disorders like familial hypercholesterolemia, could have important public health implications.

Recent findings: Recent studies have demonstrated feasibility of measuring biomarkers for heterozygous familial hypercholesterolemia from newborn screening dried blood spot specimens. Another lipid disorder, cerebrotendinous xanthomatosis, is currently amenable to newborn screening utilizing currently available assays. New research in next-generation sequencing as a primary screen in newborns will also identify both common and rare lipid disorders in newborns.

Summary: Historically, newborn screening for lipid disorders was not done for many reasons, but new research has developed testing methods that may successfully identify common and rare lipid disorders. This will impact the health of the newborn but could also impact family members and public health.

新生儿血脂紊乱筛查。
审查目的:新生儿筛查是上世纪最成功的公共卫生项目之一,为各种代谢紊乱和其他疾病的普遍筛查提供了无与伦比的机会。近年来,人们对开展新生儿血脂紊乱筛查的兴趣日益浓厚。新生儿血脂紊乱筛查对新生儿及其亲属的健康具有重要意义,对于家族性高胆固醇血症等较常见的血脂紊乱,还可能对公共卫生产生重要影响:最近的研究表明,从新生儿筛查干血斑标本中测量杂合子家族性高胆固醇血症的生物标志物是可行的。另一种血脂疾病--脑黄瘤病,目前也可以利用现有的检测方法进行新生儿筛查。下一代测序作为新生儿初筛的新研究也将识别新生儿中常见和罕见的血脂紊乱。摘要:由于多种原因,新生儿血脂紊乱筛查一直没有开展,但新研究开发的检测方法可能会成功识别常见和罕见的血脂紊乱。这将影响新生儿的健康,同时也会影响家庭成员和公众健康。
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来源期刊
Current opinion in lipidology
Current opinion in lipidology 医学-内分泌学与代谢
CiteScore
6.70
自引率
4.50%
发文量
64
审稿时长
6-12 weeks
期刊介绍: With its easy-to-digest reviews on important advances in world literature, Current Opinion in Lipidology offers expert evaluation on a wide range of topics from six key disciplines including nutrition and metabolism, genetics and molecular biology, and hyperlipidaemia and cardiovascular disease. Published bimonthly, each issue covers in detail the most pertinent advances in these fields from the previous year. This is supplemented by a section of Bimonthly Updates, which deliver an insight into new developments at the cutting edge of the disciplines covered in the journal.
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