Pompe infantil tratado con alglucosidasa alfa e inmunomodulación.

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Bibliographic Details
Title:	Pompe infantil tratado con alglucosidasa alfa e inmunomodulación.
Alternate Title:	Infantile-onset Pompe disease treated with alglucosidase alfa and immunomodulation.
Authors:	Cristina Sesman-Bernal, Brenda¹, Gabriela Jiménez-Martínez, Cielo¹, María Sánchez-Sánchez, Luz² luzsanchez68@hotmail.com, Araceli Arellano-Valdez, Carmen³, Macías-Gutiérrez, Beatriz¹, Ramiro López-Jiménez, José¹, Martínez-Montoya, Valentina⁴
Source:	Revista Mexicana de Pediatria. nov/dic2025, Vol. 92 Issue 6, p237-240. 4p.
Subjects:	ENZYME replacement therapy, IMMUNOLOGICAL tolerance, IMMUNOREGULATION, RESPIRATORY diseases, CARDIOMYOPATHIES, ALPHA-glucosidases, GLYCOGEN storage disease type II
Abstract (English):	Introduction: infantile-onset Pompe disease (IPD) is the most severe form of the disease. Enzyme replacement therapy (ERT) with alpha-alglucosidase can lead to the development of antibodies against the enzyme, neutralizing its effect. Therefore, protocols exist to induce immunological tolerance (ITI). Objective: to present the case of a child with infantile-onset IPD managed with immunomodulation and alpha-alglucosidase. Case report: a 4-month-old male was admitted with severe pneumonia, hypotonia, and cardiomyopathy. After two months of hospitalization, IPD was confirmed by low acid alpha-glucosidase activity and a pathogenic variant in exon 10 c.1447G>T of the GAA gene in the homozygous state. ERT and ITI were initiated to improve clinical response. After the start of ERT, the patient improved and was discharged. The patient continued to receive the enzyme every two weeks as an outpatient, completing a total of 23 doses, but without developing antibodies. However, the patient died from a respiratory complication at 23 months of age. Conclusions: this case illustrates how patients with infantile-onset Pompe disease have a poor prognosis, despite enzyme replacement therapy. Further efforts are needed to improve the long-term prognosis for these patients. [ABSTRACT FROM AUTHOR]
Abstract (Spanish):	Introducción: la enfermedad de Pompe (EP) de inicio infantil es la forma más grave de la enfermedad. La terapia de reemplazo enzimático (TRE) con alglucosidasa alfa puede llevar al desarrollo de anticuerpos contra la enzima, que neutralizan su efecto. De ahí que existen protocolos para inducir tolerancia inmunológica (ITI). Objetivo: presentar el caso clínico de un niño con EP de inicio infantil manejado con inmunomodulación y alglucosidasa alfa. Caso clínico: masculino de cuatro meses de edad que ingresó por neumonía grave, hipotonía y cardiomiopatía. Después de dos meses de hospitalización, la EP se confirmó por baja actividad de la enzima alfa-glucosidasa ácida y una variante patogénica en el exón 10 c.1447G>T del gen GAA en estado homocigoto. Se inició TRE y el uso de ITI para tratar de mejorar la respuesta clínica. Tras el inicio de la TRE, el paciente mejoró y pudo ser egresado. De manera ambulatoria continuó con la aplicación de la enzima cada dos semanas, completando 23 dosis, pero sin desarrollar anticuerpos. Sin embargo, el paciente falleció de una complicación respiratoria a los 23 meses de edad. Conclusiones: este caso ilustra cómo los pacientes con EP de inicio infantil tienen mal pronóstico, a pesar de la TRE. Se requieren más esfuerzos para mejorar el pronóstico a largo plazo de estos pacientes. [ABSTRACT FROM AUTHOR]
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Database:	MedicLatina

Description
Abstract:	Introduction: infantile-onset Pompe disease (IPD) is the most severe form of the disease. Enzyme replacement therapy (ERT) with alpha-alglucosidase can lead to the development of antibodies against the enzyme, neutralizing its effect. Therefore, protocols exist to induce immunological tolerance (ITI). Objective: to present the case of a child with infantile-onset IPD managed with immunomodulation and alpha-alglucosidase. Case report: a 4-month-old male was admitted with severe pneumonia, hypotonia, and cardiomyopathy. After two months of hospitalization, IPD was confirmed by low acid alpha-glucosidase activity and a pathogenic variant in exon 10 c.1447G>T of the GAA gene in the homozygous state. ERT and ITI were initiated to improve clinical response. After the start of ERT, the patient improved and was discharged. The patient continued to receive the enzyme every two weeks as an outpatient, completing a total of 23 doses, but without developing antibodies. However, the patient died from a respiratory complication at 23 months of age. Conclusions: this case illustrates how patients with infantile-onset Pompe disease have a poor prognosis, despite enzyme replacement therapy. Further efforts are needed to improve the long-term prognosis for these patients. [ABSTRACT FROM AUTHOR]
ISSN:	00350052
DOI:	10.35366/122760