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PRESENTACIONES POCO FRECUENTES DE DIABETES TIPO MODY, EL EJEMPLO DEL MODY TIPO 5 Y LAS FORMAS DE NOVO DE MODY TIPO 2

Alejandro De Dios, Sofía Irene Trobo, María Silvia Pérez, Ignacio Chiesa, Gustavo Daniel Frechtel, Ariel Pablo López

Resumen


El MODY se produce por alteraciones en genes relacionados con el metabolismo de la célula beta pancreática. El tipo 2 es uno de los más frecuentes y se produce por alteraciones en el gen GCK (glucoquinasa) y el tipo 5 es mucho menos frecuente y se produce por alteraciones en el gen HNF1B (factor nuclear hepático 1B). Se presentan con herencia autosómica dominante, aunque se ha descripto la presencia de mutaciones de novo.

El objetivo del trabajo fue buscar mutaciones en el gen GCK en pacientes sin antecedentes familiares pero con características clínicas de MODY2 y mutaciones en el gen HNF1B en pacientes con características clínicas de MODY5 con y sin antecedentes familiares. Para ello a partir de ADN se realizó la secuenciación de cada gen por el método de Sanger o por secuenciación de nueva generación. Como resultado, se hallaron mutaciones en el gen GCK en cuatro pacientes sin antecedentes familiares y mutaciones en el gen del HNF1B en dos pacientes, uno de ellos sin antecedentes familiares.

Como conclusión puede afirmarse que las mutaciones de novo en el gen de la GCK son más frecuentes de lo descripto, por lo cual se recomienda el estudio del gen en pacientes con características compatibles aún sin antecedentes familiares. También es importante el estudio del gen HNF1B en pacientes con características típicas ya que deben tratarse no sólo por sus alteraciones renales si no por la diabetes presente; de esta manera se logra un correcto diagnóstico para instaurar el tratamiento más adecuado.


Palabras clave


MODY; diabetes monogénica; GCK; HNF1B

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