Clínica y tratamiento de la diabetes tipo MODY
DOI:
https://doi.org/10.47196/diab.v48i3.190Palabras clave:
monogénica, mody, glucoquinasa, HNF-1Resumen
El término MODY (Maturity Onset Diabetes in Youngs) proviene de la antigua clasificación de la DM que la subdividía en aquellas que comenzaban en la juventud de las que lo hacían en la edad adulta. En la actualidad, se las encuadra dentro de aquellos cuadros caracterizados por “defectos genéticos en la función de la célula beta”. Es una forma monogénica de la enfermedad cuyo denominador común es la hiposecreción de insulina como factor desencadenante primario. Actualmente se han identificado 13 subtipos de MODY. Si bien MODY representa aproximadamente el 1-2% de los pacientes con DM, se estima que un gran porcentaje de los casos se encuentra sin diagnosticar. En cuanto a la frecuencia relativa, MODY 2 y MODY 3 representan alrededor del 60-80% de los casos, y MODY 1 el 10% de los mismos. En general, los pacientes con MODY se caracterizan por tener: 1) DM de comienzo en la edad joven, en general menores de 25 años; 2) fuerte influencia familiar; 3) sin estigmas de insulinorresistencia; 4) insulinoindependencia; 5) ausencia de autoanticuerpos relacionados con DM autoinmune. El diagnóstico de MODY trae aparejada implicancias pronósticas, terapéuticas y sobre consejo genético. Aquellos pacientes con mutación en glucoquinasa (MODY 2) habitualmente no desarrollan complicaciones crónicas tanto micro como macrovasculares y en general no requieren tratamiento farmacológico, mientras que aquellos con mutaciones en HNF-1α (MODY 3) tienen tendencia a complicaciones microvasculares y poseen la característica de presentar hiperrespuesta a dosis bajas de sulfonilureas, incluso en algunas ocasiones presentan hipoglucemias severas.
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Dirección Nacional de Derecho de Autor, Exp. N° 5.333.129. Instituto Nacional de la Propiedad Industrial, Marca «Revista de la Sociedad Argentina de Diabetes - Asociación Civil» N° de concesión 2.605.405 y N° de disposición 1.404/13.
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