Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
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DOI：
10.1016/j.jpeds.2017.06.048
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发表时间：
2017-11-01
影响因子：
5.1
通讯作者：
Dizikes, George
中科院分区：
文献类型：
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作者：
Burton, Barbara K.;Charrow, Joel;Dizikes, George
目的 评估伊利诺伊州第一批婴儿中 5 种溶酶体贮积症 (LSD) 的新生儿筛查结果。研究设计 采用串联质谱法对从送至芝加哥伊利诺伊州公共卫生部新生儿筛查实验室的 219 973 份新生儿样本中获得的干血斑标本中的 5 种 LSD 相关酶进行测定。结果 阳性诊断的病例总数和每种疾病的发生率如下：如下：法布里病，n = 26（8454 例中有 1 例，包括 p.A143T 变异）；庞贝病，n = 10（21 979 人中有 1 人）；戈谢病，n = 5（43 959 人中有 1 人）；粘多糖贮积症 (MPS) 1 型，n = 1（219 793 人中有 1 人）；和尼曼-匹克病 A/B 型，n = 2（109 897 例中有 1 例）。 22 名婴儿对 5 种疾病中的 1 种进行了阳性筛查，但在后续测试（包括基因分型）后无法将其分为受影响或未受影响。 α-L-艾杜糖苷酶和α-葡萄糖苷酶的假性缺陷比真正的缺陷更常见。结论 法布里病和庞贝氏病的发病率明显高于已发表的估计值，尽管大多数检测到的病例预计为晚期发病。戈谢病、MPS I 和尼曼-匹克病的发病率与之前发表的估计值相当。共有 16 名婴儿无法确定是否受影响。为了验证新生儿 LSD 筛查的真正风险和益处，对这些婴儿和那些发现迟发性疾病的婴儿进行长期随访至关重要。
Objectives To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois.Study design Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago.Results The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p.A143T variant); Pompe disease, n = 10 (1 in 21 979); Gaucher disease, n = 5 (1 in 43 959); mucopolysaccharidosis (MPS) type 1, n = 1 (1 in 219 793); and Niemann-Pick disease type A/B, n = 2 (1 in 109 897). Twenty-two infants had a positive screen for 1 of the 5 disorders but could not be classified as either affected or unaffected after follow-up testing, including genotyping. Pseudodeficiencies for alpha-L-iduronidase and alpha-glucosidase were detected more often than true deficiencies.Conclusions The incidences of Fabry disease and Pompe disease were significantly higher than published estimates, although most cases detected were predicted to be late onset. The incidences of Gaucher disease, MPS I, and Niemann-Pick disease were comparable with previously published estimates. A total of 16 infants could not be positively identified as either affected or unaffected. To validate the true risks and benefits of newborn screening for LSD, long term follow-up in these infants and those detected with later-onset disorders will be essential.