Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience - 01/11/17
, Joel Charrow, MD 1, George E. Hoganson, MD 2, Darrell Waggoner, MD 3, Brad Tinkle, MD 4, Stephen R. Braddock, MD 5, Michael Schneider, MD, PhD 6, Dorothy K. Grange, MD 7, Claudia Nash, MS 8, Heather Shryock 8, Rebecca Barnett, BA 8, Rong Shao, PhD 9, Khaja Basheeruddin, PhD 9, George Dizikes, PhD 9, 10Abstract |
Objectives |
To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois.
Study design |
Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago.
Results |
The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p.A143T variant); Pompe disease, n = 10 (1 in 21 979); Gaucher disease, n = 5 (1 in 43 959); mucopolysaccharidosis (MPS) type 1, n = 1 (1 in 219 793); and Niemann-Pick disease type A/B, n = 2 (1 in 109 897). Twenty-two infants had a positive screen for 1 of the 5 disorders but could not be classified as either affected or unaffected after follow-up testing, including genotyping. Pseudodeficiencies for alpha-L-iduronidase and alpha-glucosidase were detected more often than true deficiencies.
Conclusions |
The incidences of Fabry disease and Pompe disease were significantly higher than published estimates, although most cases detected were predicted to be late onset. The incidences of Gaucher disease, MPS I, and Niemann-Pick disease were comparable with previously published estimates. A total of 16 infants could not be positively identified as either affected or unaffected. To validate the true risks and benefits of newborn screening for LSD, long term follow-up in these infants and those detected with later-onset disorders will be essential.
Le texte complet de cet article est disponible en PDF.Abbreviations : CK, DBS, GAA, GAG, GBA, IDUA, IOPD, LOPD, LSD, MPS, MS/MS, VUS
Plan
| Shire provided a grant for follow-up of newborn screening results and a face-to-face meeting of the stakeholders. B.B. has received consulting fees and/or clinical trial funding from Shire, Biomarin, Sanofi Genzyme, Alexion, Armagen, ReGenXBio, and Ultragenyx. J.C. has received consulting fees or speaker's fees from Sanofi Genzyme, Alexion, Biomarin, the National Gaucher Foundation, and the Fabry Support and Interest Group, and clinical trial funding from Sanofi Genzyme, Shire, Biomarin, and Amicus Therapeutics. B.T. has received speaker's fees from Alexion. The other authors declare no conflicts of interest. |
Vol 190
P. 130-135 - novembre 2017 Retour au numéro
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