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Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive multisystemic lysosomal storage disorder with significant morbidity and premature mortality. Infants with MPS II develop signs and symptoms of the disorder in the early years of life, yet diagnostic delays are very common...

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Autores principales: Burton, Barbara K., Hickey, Rachel, Hitchins, Lauren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569764/
https://www.ncbi.nlm.nih.gov/pubmed/33117908
http://dx.doi.org/10.3390/ijns6030073
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author Burton, Barbara K.
Hickey, Rachel
Hitchins, Lauren
author_facet Burton, Barbara K.
Hickey, Rachel
Hitchins, Lauren
author_sort Burton, Barbara K.
collection PubMed
description Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive multisystemic lysosomal storage disorder with significant morbidity and premature mortality. Infants with MPS II develop signs and symptoms of the disorder in the early years of life, yet diagnostic delays are very common. Enzyme replacement therapy is an effective treatment option. It has been shown to prolong survival and improve or stabilize many somatic manifestations of the disorder. Our initial experience with newborn screening in 162,000 infants was previously reported. Here, we update that experience with the findings in 339,269 infants. Measurement of iduronate-2-sulfatase (I2S) activity was performed on dried blood spot samples submitted for other newborn screening disorders. A positive screen was defined as I2S activity less than or equal to 10% of the daily median. In this series, 28 infants had a positive screening test result, and four other infants had a borderline result. Three positive diagnoses of MPS II were established, and 25 were diagnosed as having I2S pseudodeficiency. The natural history and the clinical features of MPS II make it an ideal target for newborn screening. Newborn screening was effective in identifying affected infants in our population with an acceptable rate of false positive results.
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spelling pubmed-75697642020-10-27 Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update Burton, Barbara K. Hickey, Rachel Hitchins, Lauren Int J Neonatal Screen Article Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive multisystemic lysosomal storage disorder with significant morbidity and premature mortality. Infants with MPS II develop signs and symptoms of the disorder in the early years of life, yet diagnostic delays are very common. Enzyme replacement therapy is an effective treatment option. It has been shown to prolong survival and improve or stabilize many somatic manifestations of the disorder. Our initial experience with newborn screening in 162,000 infants was previously reported. Here, we update that experience with the findings in 339,269 infants. Measurement of iduronate-2-sulfatase (I2S) activity was performed on dried blood spot samples submitted for other newborn screening disorders. A positive screen was defined as I2S activity less than or equal to 10% of the daily median. In this series, 28 infants had a positive screening test result, and four other infants had a borderline result. Three positive diagnoses of MPS II were established, and 25 were diagnosed as having I2S pseudodeficiency. The natural history and the clinical features of MPS II make it an ideal target for newborn screening. Newborn screening was effective in identifying affected infants in our population with an acceptable rate of false positive results. MDPI 2020-09-03 /pmc/articles/PMC7569764/ /pubmed/33117908 http://dx.doi.org/10.3390/ijns6030073 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Burton, Barbara K.
Hickey, Rachel
Hitchins, Lauren
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
title Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
title_full Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
title_fullStr Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
title_full_unstemmed Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
title_short Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
title_sort newborn screening for mucopolysaccharidosis type ii in illinois: an update
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569764/
https://www.ncbi.nlm.nih.gov/pubmed/33117908
http://dx.doi.org/10.3390/ijns6030073
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