Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular

Carolina Mantilla, Mónica Toro, María Elsy Sepúlveda, Margarita Insuasty, Diana di Filippo, Juan Álvaro López, Carolina Baquero, María Cristina Navas, Andrés Augusto Arias, .

Palabras clave: enfermedad del almacenamiento de glucógeno de tipo III/diagnóstico, glucógeno, sistema de la enzima desramificadora del glucógeno, glucogenólisis

Resumen

Introducción. La enfermedad por almacenamiento de glucógeno de tipo III es una alteración autosómica recesiva, en la cual las mutaciones del gen AGL causan una deficiencia en la enzima desramificadora de glucógeno. Se caracteriza por hipoglucemia, hepatomegalia y miopatías progresivas. El análisis molecular del gen AGL ha evidenciado mutaciones que difieren según la población estudiada. En la actualidad, no existen reportes que describan mutaciones en el AGL de pacientes colombianos con esta condición.
Objetivo. Describir las características clínicas y moleculares de diez pacientes colombianos con enfermedad por almacenamiento del glucógeno de tipo III.
Materiales y métodos. Se analizaron diez pacientes pediátricos colombianos con la enfermedad y se hizo su estudio genético mediante la secuenciación de las regiones que codifican y las intrónicas circundantes del gen AGL con el método de Sanger.
Resultados. Todos los pacientes tenían el fenotipo clásico de la enfermedad. El estudio genético reveló la mutación p.Arg910X en dos pacientes. Uno presentó la mutación p.Glu1072AspfsX36 y otro resultó heterocigoto compuesto con las mutaciones p.Arg910X y p.Glu1072AspfsX36. Asimismo, en tres pacientes se detectó la deleción de los exones 4, 5 y 6 del gen AGL. Los estudios de simulación computacional predijeron que estos defectos eran patogénicos. En tres pacientes no se encontraron mutaciones en las regiones amplificadas.
Conclusión. Se encontraron mutaciones y deleciones que explican el fenotipo clínico de los pacientes. Este es el primer reporte en el que se describe el fenotipo clínico y el espectro de mutaciones en el gen AGL de pacientes colombianos, lo cual es importante para ofrecer un apropiado pronóstico, y asesoría genética al paciente y a su familia.

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  • Carolina Mantilla Grupo de Gastrohepatología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia
  • Mónica Toro Grupo de Gastrohepatología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia
  • María Elsy Sepúlveda Grupo de Gastrohepatología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia Hospital Pablo Tobón Uribe, Medellín, Colombia
  • Margarita Insuasty Grupo de Gastrohepatología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia
  • Diana di Filippo Grupo de Gastrohepatología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia
  • Juan Álvaro López Grupo de Inmunodeficiencias Primarias, Universidad de Antioquia, Medellín, Colombia Escuela de Microbiología, Universidad de Antioquia, Medellín, Colombia
  • Carolina Baquero Hospital Pablo Tobón Uribe, Medellín, Colombia
  • María Cristina Navas Grupo de Gastrohepatología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia
  • Andrés Augusto Arias Grupo de Gastrohepatología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia Grupo de Inmunodeficiencias Primarias, Universidad de Antioquia, Medellín, Colombia Escuela de Microbiología, Universidad de Antioquia, Medellín, Colombia

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Cómo citar
1.
Mantilla C, Toro M, Sepúlveda ME, Insuasty M, di Filippo D, López J Álvaro, et al. Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular. biomedica [Internet]. 1 de mayo de 2018 [citado 28 de marzo de 2024];38(Sup.1):30-42. Disponible en: https://revistabiomedica.org/index.php/biomedica/article/view/3454
Publicado
2018-05-01

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