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Mucopolisacaridosis tipo II: una revisión exploratoria sobre cómo evaluar esta rara enfermedad.

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Title: Mucopolisacaridosis tipo II: una revisión exploratoria sobre cómo evaluar esta rara enfermedad.
Alternate Title: Mucopolysaccharidosis type II: a scoping review on how to assess this rare disease.
Authors: Schmitt Schlindwein, Sofia1, Barrozo Marrazzo, Enzzo1, Nunes Campos, Letícia1,2 pa_rdcom@spine.org.ar, Francisca Argüelles, Carina1,3,4, Fernandez Zelcer, Federico1, Stegmann, Carlos1, Stegmann, Jorgelina1,2, Gerk, Ayla1,5
Source: Andes Pediatrica. mar/abr2026, Vol. 97 Issue 2, p311-327. 17p.
Subjects: MUCOPOLYSACCHARIDOSIS II, DIAGNOSIS, STANDARD operating procedure, LYSOSOMAL storage diseases, CATALYTIC activity, NEUROLOGIC manifestations of general diseases, PATIENT monitoring
Abstract (English): Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare lysosomal storage disorder caused by pathogenic variants in the IDS gene. This condition has specific treatment; therefore, timely diagnosis and adequate follow-up are essential for optimizing patient outcomes. Objective: To synthesize the available evidence on diagnostic and follow-up approaches for MPS II. Methods: Scoping review of ten databases for articles published between 2017 and 2022. Studies involving human participants were included if they addressed diagnostic or follow-up methods for MPS II. We followed the PRISMA-ScR guidelines and conducted qualitative analysis and descriptive statistics to identify trends in diagnostic and follow-up practices. Results: 31 articles were selected. Of these, 23 reported clinical findings, with most articles focusing on neurological (n = 17), skeletal and limbs (n = 16), and head and neck (n = 15) manifestations. Enzyme activity testing was the most reported diagnostic method, although the techniques used were frequently unspecified. Follow-up approaches included imaging studies, clinical assessments, and quality-of-life measurement scales. However, the lack of standardization in methodologies limits the generalizability of findings. Conclusion: This review highlights the need for standardized diagnostic and follow-up protocols for MPS II. Greater transparency in reporting diagnostic methods and a consistent follow-up framework are critical to improving patient care and facilitating research comparisons. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): La mucopolisacaridosis tipo II (MPS II), o síndrome de Hunter, es un trastorno poco frecuente del almacenamiento lisosomal causado por variantes patogénicas en el gen IDS. Esta enfermedad rara tiene tratamiento específico, por lo que el diagnóstico oportuno y un adecuado seguimiento clínico son esenciales para optimizar los resultados en los pacientes. Objetivo: Sintetizar la evidencia disponible sobre los enfoques diagnósticos y de seguimiento en el MPS II. Método: Revisión exploratoria. Se realizaron búsquedas en diez bases de datos para identificar artículos publicados entre 2017 y 2022. Se incluyeron estudios en seres humanos que abordaran métodos de diagnóstico o seguimiento en MPS II. La revisión se desarrolló según las directrices PRISMA-ScR, con análisis cualitativo y estadística descriptiva para identificar tendencias en las prácticas clínicas. Resultados: Se incluyeron 31 artículos. De estos, 23 describieron hallazgos clínicos, con mayor frecuencia sobre manifestaciones neurológicas (n = 17), esqueléticas y de las extremidades (n = 16) y de cabeza y cuello (n = 15). La medición de la actividad enzimática fue el método diagnóstico más mencionado, aunque la mayoría de los artículos no detalló las técnicas empleadas. Las estrategias de seguimiento incluyeron estudios de imagen, evaluaciones clínicas y escalas de calidad de vida. Sin embargo, la falta de estandarización metodológica limita la aplicabilidad de los hallazgos. Conclusión: Esta revisión resalta la necesidad de establecer protocolos estandarizados para el diagnóstico y el seguimiento en el MPS II. La transparencia en los métodos diagnósticos y un marco de seguimiento homogéneo son fundamentales para mejorar la atención y facilitar la comparación entre estudios. [ABSTRACT FROM AUTHOR]
Copyright of Andes Pediatrica is the property of Revista Chilena de Pediatria and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: MedicLatina
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  Label: Title
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  Data: Mucopolisacaridosis tipo II: una revisión exploratoria sobre cómo evaluar esta rara enfermedad.
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  Data: Mucopolysaccharidosis type II: a scoping review on how to assess this rare disease.
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  Data: <searchLink fieldCode="AR" term="%22Schmitt+Schlindwein%2C+Sofia%22">Schmitt Schlindwein, Sofia</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Barrozo+Marrazzo%2C+Enzzo%22">Barrozo Marrazzo, Enzzo</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Nunes+Campos%2C+Letícia%22">Nunes Campos, Letícia</searchLink><relatesTo>1,2</relatesTo><i> pa_rdcom@spine.org.ar</i><br /><searchLink fieldCode="AR" term="%22Francisca+Argüelles%2C+Carina%22">Francisca Argüelles, Carina</searchLink><relatesTo>1,3,4</relatesTo><br /><searchLink fieldCode="AR" term="%22Fernandez+Zelcer%2C+Federico%22">Fernandez Zelcer, Federico</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Stegmann%2C+Carlos%22">Stegmann, Carlos</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Stegmann%2C+Jorgelina%22">Stegmann, Jorgelina</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Gerk%2C+Ayla%22">Gerk, Ayla</searchLink><relatesTo>1,5</relatesTo>
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  Data: <searchLink fieldCode="JN" term="%22Andes+Pediatrica%22">Andes Pediatrica</searchLink>. mar/abr2026, Vol. 97 Issue 2, p311-327. 17p.
– Name: Subject
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  Data: <searchLink fieldCode="DE" term="%22MUCOPOLYSACCHARIDOSIS+II%22">MUCOPOLYSACCHARIDOSIS II</searchLink><br /><searchLink fieldCode="DE" term="%22DIAGNOSIS%22">DIAGNOSIS</searchLink><br /><searchLink fieldCode="DE" term="%22STANDARD+operating+procedure%22">STANDARD operating procedure</searchLink><br /><searchLink fieldCode="DE" term="%22LYSOSOMAL+storage+diseases%22">LYSOSOMAL storage diseases</searchLink><br /><searchLink fieldCode="DE" term="%22CATALYTIC+activity%22">CATALYTIC activity</searchLink><br /><searchLink fieldCode="DE" term="%22NEUROLOGIC+manifestations+of+general+diseases%22">NEUROLOGIC manifestations of general diseases</searchLink><br /><searchLink fieldCode="DE" term="%22PATIENT+monitoring%22">PATIENT monitoring</searchLink>
– Name: Abstract
  Label: Abstract (English)
  Group: Ab
  Data: Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare lysosomal storage disorder caused by pathogenic variants in the IDS gene. This condition has specific treatment; therefore, timely diagnosis and adequate follow-up are essential for optimizing patient outcomes. Objective: To synthesize the available evidence on diagnostic and follow-up approaches for MPS II. Methods: Scoping review of ten databases for articles published between 2017 and 2022. Studies involving human participants were included if they addressed diagnostic or follow-up methods for MPS II. We followed the PRISMA-ScR guidelines and conducted qualitative analysis and descriptive statistics to identify trends in diagnostic and follow-up practices. Results: 31 articles were selected. Of these, 23 reported clinical findings, with most articles focusing on neurological (n = 17), skeletal and limbs (n = 16), and head and neck (n = 15) manifestations. Enzyme activity testing was the most reported diagnostic method, although the techniques used were frequently unspecified. Follow-up approaches included imaging studies, clinical assessments, and quality-of-life measurement scales. However, the lack of standardization in methodologies limits the generalizability of findings. Conclusion: This review highlights the need for standardized diagnostic and follow-up protocols for MPS II. Greater transparency in reporting diagnostic methods and a consistent follow-up framework are critical to improving patient care and facilitating research comparisons. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Spanish)
  Group: Ab
  Data: La mucopolisacaridosis tipo II (MPS II), o síndrome de Hunter, es un trastorno poco frecuente del almacenamiento lisosomal causado por variantes patogénicas en el gen IDS. Esta enfermedad rara tiene tratamiento específico, por lo que el diagnóstico oportuno y un adecuado seguimiento clínico son esenciales para optimizar los resultados en los pacientes. Objetivo: Sintetizar la evidencia disponible sobre los enfoques diagnósticos y de seguimiento en el MPS II. Método: Revisión exploratoria. Se realizaron búsquedas en diez bases de datos para identificar artículos publicados entre 2017 y 2022. Se incluyeron estudios en seres humanos que abordaran métodos de diagnóstico o seguimiento en MPS II. La revisión se desarrolló según las directrices PRISMA-ScR, con análisis cualitativo y estadística descriptiva para identificar tendencias en las prácticas clínicas. Resultados: Se incluyeron 31 artículos. De estos, 23 describieron hallazgos clínicos, con mayor frecuencia sobre manifestaciones neurológicas (n = 17), esqueléticas y de las extremidades (n = 16) y de cabeza y cuello (n = 15). La medición de la actividad enzimática fue el método diagnóstico más mencionado, aunque la mayoría de los artículos no detalló las técnicas empleadas. Las estrategias de seguimiento incluyeron estudios de imagen, evaluaciones clínicas y escalas de calidad de vida. Sin embargo, la falta de estandarización metodológica limita la aplicabilidad de los hallazgos. Conclusión: Esta revisión resalta la necesidad de establecer protocolos estandarizados para el diagnóstico y el seguimiento en el MPS II. La transparencia en los métodos diagnósticos y un marco de seguimiento homogéneo son fundamentales para mejorar la atención y facilitar la comparación entre estudios. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Andes Pediatrica is the property of Revista Chilena de Pediatria and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=lth&AN=193700786
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        Value: 10.32641/andespediatr.v97i2.5639
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      – SubjectFull: CATALYTIC activity
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      – SubjectFull: NEUROLOGIC manifestations of general diseases
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