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

Pompe disease newborn screening

Journal

International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400

Informations de publication

Date de publication:
03 2020
Historique:
received: 11 12 2019
accepted: 18 01 2020
entrez: 19 10 2020
pubmed: 20 10 2020
medline: 20 10 2020
Statut: epublish

Résumé

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.

Identifiants

DOI: 10.3390/ijns6010004 PMID: 33073003 PMC: PMC7422983
pubmed: 33073003
doi: 10.3390/ijns6010004
pii: ijns6010004
pmc: PMC7422983
doi:
pii:

Types de publication

Journal Article

Langues

eng

Pagination

4

Informations de copyright

© 2020 by the authors.

Déclaration de conflit d'intérêts

Conflicts of InterestB.K.B. has received consulting fees and/or honoraria from Sanofi Genzyme, Biomarin, Shire (a Takeda company), Ultragenyx, Moderna, Horizon, Alexion, Chiesi, Denali, JCR Pharma, Aeglea, and Agios. She has conducted contracted research for Sanofi Genzyme, Biomarin, Shire, Alexion, Ultragenyx, and Sangamo and Homology Medicines. J.C. has also received grant support for research from: Sanofi Genzyme, Shire, Amicus, BioMarin, and Protalix. Dorothy K. Grange conducts contracted research for Biomarin and Shire (a Takeda company). The following authors declare no conflict of interest: K.B., S.R.B., K.M.C., J.F., D.G., R.H., L.H., G.E.H., H.S., R.S., and P.S.

Références

J Pediatr. 2015 Jan;166(1):172-7
pubmed: 25444528
J Pediatr. 2016 Feb;169:174-80.e1
pubmed: 26685070
Pediatrics. 2008 Jul;122(1):e39-45
pubmed: 18519449
Genet Med. 2006 May;8(5):267-88
pubmed: 16702877
JAMA Pediatr. 2018 Jul 1;172(7):696-697
pubmed: 29813145
Genet Med. 2019 Apr;21(4):887-895
pubmed: 30214072
Hum Mutat. 2019 Nov;40(11):2146-2164
pubmed: 31342611
Pediatrics. 2009 Dec;124(6):e1116-25
pubmed: 19948615
Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):50-8
pubmed: 22252961
J Pediatr. 2018 Jul;198:308-312
pubmed: 29627187
Mol Genet Metab. 2009 Jul;97(3):190-5
pubmed: 19362502
Pediatr Res. 2009 Sep;66(3):329-35
pubmed: 19542901
J Pediatr. 2017 Nov;190:130-135
pubmed: 28728811
Mol Genet Metab. 2010 Jan;99(1):26-33
pubmed: 19775921
Genet Med. 2012 Jan;14(1):135-42
pubmed: 22237443
JCI Insight. 2017 Aug 17;2(16):
pubmed: 28814660
N Engl J Med. 2010 Apr 15;362(15):1396-406
pubmed: 20393176
JIMD Rep. 2015;19:67-73
pubmed: 25681082

Auteurs

Barbara K Burton (BK)

Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA; JCharrow@luriechildrens.org.
Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; lhitchins@luriechildrens.org (L.H.); rahickey@luriechildrens.org (R.H.).

Joel Charrow (J)

Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA; JCharrow@luriechildrens.org.
Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; lhitchins@luriechildrens.org (L.H.); rahickey@luriechildrens.org (R.H.).

George E Hoganson (GE)

Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL 60612, USA; geh@uic.edu.

Julie Fleischer (J)

Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL 62701, USA; jfleischer95@siumed.edu (J.F.); dgroepper@siumed.edu (D.G.).

Dorothy K Grange (DK)

Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO 63110, USA; grange_d@kids.wustl.edu.

Stephen R Braddock (SR)

Department of Pediatrics, Saint Louis University, St. Louis, MO 63104, USA; braddock@slu.edu (S.R.B.); katherine.christensen@health.slu.edu (K.M.C.).

Lauren Hitchins (L)

Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; lhitchins@luriechildrens.org (L.H.); rahickey@luriechildrens.org (R.H.).

Rachel Hickey (R)

Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; lhitchins@luriechildrens.org (L.H.); rahickey@luriechildrens.org (R.H.).

Katherine M Christensen (KM)

Department of Pediatrics, Saint Louis University, St. Louis, MO 63104, USA; braddock@slu.edu (S.R.B.); katherine.christensen@health.slu.edu (K.M.C.).

Daniel Groepper (D)

Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL 62701, USA; jfleischer95@siumed.edu (J.F.); dgroepper@siumed.edu (D.G.).

Heather Shryock (H)

Office of Health Promotion, Illinois Department of Public Health, Springfield, IL 62761, USA; Heather.Shryock@Illinois.gov (H.S.); Pamela.E.Smith@illinois.gov (P.S.).

Pamela Smith (P)

Office of Health Promotion, Illinois Department of Public Health, Springfield, IL 62761, USA; Heather.Shryock@Illinois.gov (H.S.); Pamela.E.Smith@illinois.gov (P.S.).

Rong Shao (R)

Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60603, USA; Rong.Shao@Illinois.gov (R.S.); Khaja.Basheeruddin@Illinois.gov (K.B.).

Khaja Basheeruddin (K)

Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60603, USA; Rong.Shao@Illinois.gov (R.S.); Khaja.Basheeruddin@Illinois.gov (K.B.).

Classifications MeSH