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Diabetes MODY/español

Diabetes tipo MODY.

¿Qué es?

Este tipo de diabetes recibe su nombre por la abreviatura de la frase en inglés, Maturity Onset Diabetes of the Young (diabetes de la edad madura que se presenta en el joven). La diabetes tipo MODY en un principio se puede parecer más a la tipo 2, que inicia en la madurez y sin necesidad de insulina, pero la MODY se presenta en una edad precoz, antes de los 25 años y no son obesos.

La diabetes tipo MODY es mucho menos frecuente siendo responsable del 2-5% de los casos, aunque muchas veces está sin diagnosticar. Se debe a un problema genético de herencia dominante, es decir, que se transmite fuertemente de padres a hijos. Existen diferentes subtipos de diabetes MODY, dependiente del problema genético que exista y, según el tipo, pueden tratarse con dieta, fármacos orales o necesitar insulina, especialmente en las de larga evolución.


La mayoría de los casos de diabetes MODY se deben a mutaciones heterocigóticas en 6 genes (4):

  • Gen que codifica la enzima glucoquinasa: subtipo MODY 2 (9). 
  • Factor nuclear hepático 4 alfa: subtipo MODY 1 (10). 
  • Factor nuclear hepático 1 alfa: subtipo MODY 3 (11). 
  • Factor 1 promotor de la insulina: subtipo MODY 4 (12). 
  • Factor nuclear hepático 1 beta: subtipo MODY 5 (13). 
  • Factor 1 de diferenciación neurogénica, también denominado beta 2: subtipo MODY 6 (14).

Síntomas.


 

  • Hiperglucemia asintomática. 
  • No suele asociarse con obesidad o sobrepeso. 
  • Suele tener una evolución lenta y progresiva. 
  • Déficit en la secreción de insulina. 
  • No suele iniciarse con cetonurias. 
  • Evolución lenta y progresiva. 


Tratamiento.



La perspectiva clínica y el tratamiento para la diabetes tipo MODY depende de la causa genética. El MODY 2 puede ser manejado con alimentación y ejercicios físicos con excelente pronóstico. Los subtipos 1, 3 y 4 responden bien al uso de sulfonilureas, aunque una importante proporción de ellos (30-40 % para MODY 1 y MODY 3), requieren eventualmente terapia insulínica, debido al fallo progresivo de las células beta. El MODY 5 requiere reemplazo de la función pancreática endocrina y exocrina, y tratamiento para múltiples anomalías orgánicas. En los pacientes con sobrepeso la pérdida de peso mejora la hiperglucemia.




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