Newborn Screening for Pompe Disease: Pennsylvania Experience.
Newborn Screening for Pompe Disease: Pennsylvania Experience.
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DOI：
10.3390/ijns6040089
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发表时间：
2020-11-13
影响因子：
3.5
通讯作者：
Xiao R
中科院分区：
文献类型：
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作者：
Ficicioglu C;Ahrens-Nicklas RC;Barch J;Cuddapah SR;DiBoscio BS;DiPerna JC;Gordon PL;Henderson N;Menello C;Luongo N;Ortiz D;Xiao R
宾夕法尼亚州于 2016 年 2 月开始对新生儿庞贝病进行筛查。2016 年 2 月至 2019 年 12 月期间，共筛查了 531,139 名新生儿。通过流动注射串联质谱 (FIA/MS/MS) 测量 α-葡萄糖苷酶 (GAA) 酶活性，并对所有 GAA 酶活性低 [<2.10 微摩尔/L/h] 的新生儿进行 GAA 基因的完整测序作为二级测试。共有 115 名新生儿 GAA 酶活性低且基因检测异常，被转诊至代谢中心。两名新生儿被诊断患有婴儿型庞贝病（IOPD），31名新生儿被确诊患有晚发性庞贝病（LOPD）。 IOPD+LOPD的发生率为1:16,095。总共 30 名患者为一种致病性突变和一种意义不明变异 (VUS) 突变或两种 VUS 突变的复合杂合子，被定义为疑似 LOPD。 PA中IOPD+LOPD+疑似LOPD的发生率为1：8431。我们还发现了 35 名携带者、15 名假缺陷携带者和 2 名假阳性新生儿。
Pennsylvania started newborn screening for Pompe disease in February 2016. Between February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase (GAA) enzyme activity is measured by flow-injection tandem mass spectrometry (FIA/MS/MS) and full sequencing of the GAA gene is performed as a second-tier test in all newborns with low GAA enzyme activity [<2.10 micromole/L/h]. A total of 115 newborns had low GAA enzyme activity and abnormal genetic testing and were referred to metabolic centers. Two newborns were diagnosed with Infantile Onset Pompe Disease (IOPD), and 31 newborns were confirmed to have Late Onset Pompe Disease (LOPD). The incidence of IOPD + LOPD was 1:16,095. A total of 30 patients were compound heterozygous for one pathogenic and one variant of unknown significance (VUS) mutation or two VUS mutations and were defined as suspected LOPD. The incidence of IOPD + LOPD + suspected LOPD was 1: 8431 in PA. We also found 35 carriers, 15 pseudodeficiency carriers, and 2 false positive newborns.