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Mucopolysaccharidosis Type I in Mexico: Case-Based Review
Introduction: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease present in 1:100,000 newborns. Variants in the IDUA (alpha-L-iduronidase) gene decrease the enzyme activity for glycosaminoglycans metabolism. MPS I patients exhibit clinical manifestations that fall on the Hurler, Hur...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136708/ https://www.ncbi.nlm.nih.gov/pubmed/37189891 http://dx.doi.org/10.3390/children10040642 |
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author | Cantú-Reyna, Consuelo Vazquez-Cantu, Diana Laura Cruz-Camino, Héctor Narváez-Díaz, Yuriria Arlette Flores-Caloca, Óscar González-Llano, Óscar Araiza-Lozano, Carolina Gómez-Gutiérrez, René |
author_facet | Cantú-Reyna, Consuelo Vazquez-Cantu, Diana Laura Cruz-Camino, Héctor Narváez-Díaz, Yuriria Arlette Flores-Caloca, Óscar González-Llano, Óscar Araiza-Lozano, Carolina Gómez-Gutiérrez, René |
author_sort | Cantú-Reyna, Consuelo |
collection | PubMed |
description | Introduction: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease present in 1:100,000 newborns. Variants in the IDUA (alpha-L-iduronidase) gene decrease the enzyme activity for glycosaminoglycans metabolism. MPS I patients exhibit clinical manifestations that fall on the Hurler, Hurler–Scheie, and Scheie syndrome spectrum. Case presentation: We present a male Mexican patient with respiratory exacerbations requiring recurrent hospitalizations. He showed macrocephaly, coarse facies, hepatomegaly, umbilical hernia, and dorsal kyphosis. The sequencing of the IDUA gene revealed the following genotype: c.46_57del12/c.1205G>A. He received combined therapy with hematopoietic stem cell transplantation and enzyme replacement. Mexican case reports were analyzed to estimate the prevalence of the associated genetic variants. Conclusion: Despite the challenges of managing this rare disease in Mexico, our patient benefited from the combined therapy. The discrete clinical manifestations and prompt evaluation by a geneticist were crucial in establishing a diagnosis, enabling an early intervention by a multidisciplinary team. The combination of ERT before and after HSCT provided health benefits to our patient. |
format | Online Article Text |
id | pubmed-10136708 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-101367082023-04-28 Mucopolysaccharidosis Type I in Mexico: Case-Based Review Cantú-Reyna, Consuelo Vazquez-Cantu, Diana Laura Cruz-Camino, Héctor Narváez-Díaz, Yuriria Arlette Flores-Caloca, Óscar González-Llano, Óscar Araiza-Lozano, Carolina Gómez-Gutiérrez, René Children (Basel) Case Report Introduction: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease present in 1:100,000 newborns. Variants in the IDUA (alpha-L-iduronidase) gene decrease the enzyme activity for glycosaminoglycans metabolism. MPS I patients exhibit clinical manifestations that fall on the Hurler, Hurler–Scheie, and Scheie syndrome spectrum. Case presentation: We present a male Mexican patient with respiratory exacerbations requiring recurrent hospitalizations. He showed macrocephaly, coarse facies, hepatomegaly, umbilical hernia, and dorsal kyphosis. The sequencing of the IDUA gene revealed the following genotype: c.46_57del12/c.1205G>A. He received combined therapy with hematopoietic stem cell transplantation and enzyme replacement. Mexican case reports were analyzed to estimate the prevalence of the associated genetic variants. Conclusion: Despite the challenges of managing this rare disease in Mexico, our patient benefited from the combined therapy. The discrete clinical manifestations and prompt evaluation by a geneticist were crucial in establishing a diagnosis, enabling an early intervention by a multidisciplinary team. The combination of ERT before and after HSCT provided health benefits to our patient. MDPI 2023-03-30 /pmc/articles/PMC10136708/ /pubmed/37189891 http://dx.doi.org/10.3390/children10040642 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Cantú-Reyna, Consuelo Vazquez-Cantu, Diana Laura Cruz-Camino, Héctor Narváez-Díaz, Yuriria Arlette Flores-Caloca, Óscar González-Llano, Óscar Araiza-Lozano, Carolina Gómez-Gutiérrez, René Mucopolysaccharidosis Type I in Mexico: Case-Based Review |
title | Mucopolysaccharidosis Type I in Mexico: Case-Based Review |
title_full | Mucopolysaccharidosis Type I in Mexico: Case-Based Review |
title_fullStr | Mucopolysaccharidosis Type I in Mexico: Case-Based Review |
title_full_unstemmed | Mucopolysaccharidosis Type I in Mexico: Case-Based Review |
title_short | Mucopolysaccharidosis Type I in Mexico: Case-Based Review |
title_sort | mucopolysaccharidosis type i in mexico: case-based review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136708/ https://www.ncbi.nlm.nih.gov/pubmed/37189891 http://dx.doi.org/10.3390/children10040642 |
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