黏多糖贮积症 I 型的新生儿筛查：从经验中学习，不断前行。
Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience.
作者信息
Clarke Lorne A, Dickson Patricia, Ellinwood N Matthew, Klein Terri L
机构信息
Department of Medical Genetics, B.C. Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z-4H4, Canada.
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
出版信息
Int J Neonatal Screen. 2020 Nov 19;6(4):91. doi: 10.3390/ijns6040091.
There have been significant advances allowing for the integration of mucopolysaccharidosis I into newborn screening programs. Initial experiences using a single-tier approach for this disorder have highlighted shortcomings that require immediate remediation. The recent evaluation of a second-tier biomarker integrated into the MPS I newborn screening protocol has been demonstrated to greatly improve the precision and predictive value of newborn screening for this disorder. This commentary urges newborn screening programs to learn from these experiences and improve newborn screening for mucopolysaccharidosis I and future mucopolysaccharidoses newborn screening programs by implementation of a second-tier biomarker analyte.
在将黏多糖贮积症 I 纳入新生儿筛查项目方面已经取得了重大进展。使用单层方法对该疾病进行筛查的初步经验凸显了一些需要立即纠正的缺点。最近对纳入黏多糖贮积症 I 新生儿筛查方案的二级生物标志物进行的评估表明，这大大提高了该疾病新生儿筛查的准确性和预测价值。本评论敦促新生儿筛查项目借鉴这些经验，并通过实施二级生物标志物分析物来改进黏多糖贮积症 I 的新生儿筛查以及未来的黏多糖贮积症新生儿筛查项目。
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