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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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.
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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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