Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

International Journal of Neonatal Screening

Lauren Hitchins¹  Rachel Hickey¹  Barbara K. Burton²  Joel Charrow²  Stephen R. Braddock³  Katherine M. Christensen³  Daniel Groeppner⁴  Julie Fleischer⁴  George E. Hoganson⁵  Dorothy K. Grange⁶  Rong Shao⁷  Khaja Basheeruddin⁷  Heather Shryock⁸  Pamela Smith⁸ 

[1] Department of Pediatrics, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USA;Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA;Department of Pediatrics, Saint Louis University, St. Louis, MO 63104, USA;Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL 62701, USA;Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL 60612, USA;Department of Pediatrics, Washington University School of Medicine and St. Louis Children’s Hospital, St. Louis, MO 63110, USA;Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60603, USA;Office of Health Promotion, Illinois Department of Public Health, Springfield, IL 62761, USA;

关键词: pompe disease;    newborn screening;   

DOI  :  10.3390/ijns6010004

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown