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2009, Número 4

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Bioquimia 2009; 34 (4)


Hiperinsulinismo en lactantes y niños: cuando el nivel de insulina no siempre es suficiente

Palladino AA, Bennett MJ, Stanley CA

Idioma: Español
Referencias bibliográficas: 66
Paginas: 202-212
Archivo PDF: 197.25 Kb.


RESUMEN

Antecedentes: La hipoglucemia en lactantes y niños puede conducir a convulsiones, retraso en el desarrollo y a lesión cerebral permanente. El hiperinsulinismo (HI) es la causa más común de ambos desórdenes de hipoglucemia transitorio y permanente. El HI se ha caracterizado por falla en la secreción de insulina, dando como resultado hipoglucemia persistente que va de leve a severa. Las diversas formas de HI representan a un grupo de desórdenes clínica, genética y morfológicamente heterogéneas. Contenido: El hiperinsulinismo congénito está asociado a mutaciones de SUR-1 y Kir6.2, glucocinasa, glutamato deshidrogenasa, deshidrogenasa 3- hydroxiacil CoA de cadena corta y la expresión ectópica de SLC16A1 en la membrana celular de las células β. El HI puede estar asociado con el estrés perinatal, tal como la asfixia de nacimiento, toxemia materna, nacimiento prematuro o retraso en el crecimiento intrauterino, dando como resultado hipoglucemia neonatal prolongada. Los simuladores del hiperinsulinismo incluyen panhipopituitarismo, hipoglucemia inducida por medicamentos, insulinoma, anticuerpos estimuladores del receptor de insulina y anti-insulinismo, síndrome de Beckwith-Wiedemann y desórdenes congénitos en la glucosilación. Las pruebas de laboratorio para el hiperinsulinismo pueden incluir la cuantificación de glucosa en sangre; insulina, β-hidroxibutirato, ácidos grasos, amonio y perfil de acilcarnitina plasmáticos, y ácidos orgánicos urinarios. Las pruebas genéticas están disponibles a través de laboratorios comerciales para genes conocidos asociados al hiperinsulinismo. Las pruebas de respuesta aguda a la insulina son útiles para la caracterización fenotípica. Las pruebas de imagen e histología son herramientas disponibles para el diagnóstico y clasificación del hiperinsulinismo. El objetivo del tratamiento en niños con hiperinsulinismo tiene como finalidad prevenir daño cerebral debido a la hipoglucemia y mantener los niveles de glucosa en plasma arriba de 700 mg/L (70 mg/dL) por medio de la terapia farmacológica o quirúrgica. Resumen: El manejo del hiperinsulinismo requiere áreas multidisciplinarias que incluyen a endocrinólogos pediátricos, radiólogos, cirujanos y patólogos, quienes están entrenados para el diagnóstico, identificación y tratamiento del hiperinsulinismo.


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