新生儿溶酶体贮积症及其他神经病变性疾病的筛查。
Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
作者信息
Matern Dietrich, Oglesbee Devin, Tortorelli Silvia
机构信息
Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
出版信息
Dev Disabil Res Rev. 2013;17(3):247-53. doi: 10.1002/ddrr.1117.
Abstract
Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component. Some of these conditions have already been added to a few national and international screening programs, whereas others are undergoing pilot studies to determine the test performance metrics. Here, we review the current state of NBS for 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia.
摘要
新生儿筛查（NBS）是一项公共卫生项目，旨在识别无症状新生儿中可治疗的疾病，以避免过早死亡、发病和残疾。目前，美国的每一名新生儿都至少接受29种疾病的筛查，有证据表明早期检测是可行且有益的。随着新的或改进的治疗方案以及高通量筛查测试的发展，更多疾病被提议纳入新生儿筛查项目。其中包括几种具有强烈神经病变成分的疾病。这些疾病中的一些已经被纳入一些国家和国际筛查项目，而其他疾病正在进行试点研究以确定测试性能指标。在此，我们综述了13种溶酶体贮积症、X-肾上腺脑白质营养不良、威尔逊病和弗里德赖希共济失调的新生儿筛查现状。
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本文引用的文献
1
Newborn screening for Pompe disease: an update, 2011.新生儿庞贝氏病筛查：更新，2011 年。
Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):8-12. doi: 10.1002/ajmg.c.31315. Epub 2012 Jan 17.
2
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.SLC33A1 基因突变导致一种致命的常染色体隐性遗传病，其特征为先天性白内障、听力损失以及血清铜和铜蓝蛋白水平降低。
Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030.
3
The impact of false-positive newborn screening results on families: a qualitative study.假阳性新生儿筛查结果对家庭的影响：一项定性研究。
Genet Med. 2012 Jan;14(1):76-80. doi: 10.1038/gim.2011.5.
4
Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.从干血斑中联合提取酰基肉碱和 26:0 溶血磷脂酰胆碱：用于 X 连锁肾上腺脑白质营养不良的前瞻性新生儿筛查。
Mol Genet Metab. 2012 Mar;105(3):416-20. doi: 10.1016/j.ymgme.2011.11.195. Epub 2011 Dec 2.
5
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10
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