Palabras clave
MODY
diagnóstico
Clasificación
Prueba genética
Medicina de precisión
Cómo citar
Resumen
Contexto: la diabetes de inicio en la madurez del joven (MODY, según sus siglas en inglés) es una forma poco frecuente de diabetes monogénica, caracterizada por mutaciones genéticas que afectan la función de las células beta pancreáticas.
Objetivo: describir el enfoque clínico, diagnóstico y terapéutico de MODY, destacando sus características fenotípicas, herramientas diagnósticas actuales, opciones terapéuticas y su rol en la medicina de precisión.
Metodología: se realizó una revisión narrativa de la literatura cientifica sobre diabetes tipo MODY. Se incluyeron artículos originales, revisiones narrativas, reportes de caso y guías clínicas que hubieran sido publicados en inglés y español hasta septiembre de 2024.
Resultados: MODY es una patología heterogénea, clasificada en subtipos según mutaciones genéticas específicas. Su diagnóstico es un reto clínico, siendo erróneamente diagnosticada hasta en el 80,0?% de los casos como diabetes tipo 1 o 2, debido a su complejidad diagnóstica. La identificación de las características fenotípicas de cada subtipo, junto con el uso e interpretación adecuada de las calculadoras de probabilidad diagnóstica, son fundamentales para reducir los errores de clasificación e identificar los candidatos para estudios genéticos. Se propone un algoritmo diagnóstico como punto de partida, para la implementación sistemática de la evaluación de probabilidad diagnóstica de MODY en un centro de referencia.
Conclusiones: el diagnóstico de MODY representa un desafío clínico, en el que una caracterización fenotípica y genética adecuada es fundamental para avanzar hacia la medicina de precisión.
Citas
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