伊利诺伊州庞贝病的新生儿筛查：684,290名婴儿的经验。
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
作者信息
Burton Barbara K, Charrow Joel, Hoganson George E, Fleischer Julie, Grange Dorothy K, Braddock Stephen R, Hitchins Lauren, Hickey Rachel, Christensen Katherine M, Groepper Daniel, Shryock Heather, Smith Pamela, Shao Rong, Basheeruddin Khaja
机构信息
Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA;
Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA;
出版信息
Int J Neonatal Screen. 2020 Jan 21;6(1):4. doi: 10.3390/ijns6010004. eCollection 2020 Mar.
Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identified (3 infantile, 26 late-onset). While many of the remainder were found to have normal alpha-glucosidase activity on the follow-up testing (234 of 395), other findings included 62 carriers, 39 infants with pseudodeficiency, and eight infants who could not be given a definitive diagnosis due to inconclusive follow-up testing.
2015年，伊利诺伊州开始在全州范围内对庞贝病进行新生儿筛查。截至2019年9月30日，共有684,290名婴儿接受了筛查，其中395名婴儿（0.06%）筛查呈阳性。共确诊29例庞贝病（3例婴儿型，26例晚发型）。虽然其余许多婴儿在后续检测中发现α-葡萄糖苷酶活性正常（395例中有234例），但其他检测结果包括62名携带者、39名假缺陷婴儿，以及8名因后续检测结果不确定而无法明确诊断的婴儿。
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