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Other types of diabetes. When to think of them? (English)

Distinguishing type 1 from type 2 diabetes is sometimes a challenge, since presentations may be atypical or overlapped, for instance, patients with type 1 diabetes may have pathophysiological elements of type 2 diabetes. MODY (maturity onset diabetes of the young) or more recently called monogenic diabetes, are rare forms of diabetes, caused by monogenic defects. The most common mutations are in HNF4A (hepatocyte nuclear factor 4 alfa), HNF1A (hepatocyte nuclear factor 1 alfa) and GCK (glucokinase). The correct diagnosis is essential because there are different treatment options for each mutation, some respond favourably to sulphonylureas, while other types of monogenic diabetes rarely warrant pharmacologic treatment. In this revision, we will mention the characteristics and pathology of monogenic diabetes and which patients will benefit from further genetic testing in order to reach a correct diagnosis. According to different series, between 50% and 80% of patients with monogenic diabetes are not diagnosed correctly. [ABSTRACT FROM AUTHOR]

En algunos casos es complejo distinguir entre diabetes tipo 1 y tipo 2, ya que algunas manifestaciones pueden ser atípicas o superpuestas, incluso, pacientes con diabetes tipo 1 tienen elementos fisiopatológicos de diabetes tipo 2. Las MODY (Maturity Onset Diabetes of the Young) o más recientemente llamadas diabetes monogénica, son formas raras de diabetes, causadas por defectos monogénicos, los más comunes son mutaciones en el HNF4A (factor nuclear 4 alfa de hepatocito), HNF1A (factor nuclear 1 alfa de hepatocito) y GCK (glucocinasa). El diagnóstico correcto podría cambiar el tratamiento, ya que algunos tipos responden favorablemente a las sulfonilureas, mientras que otros tipos rara vez requieren tratamiento farmacológico. En esta revisión se mencionan las características de los tipos especiales y se indaga sobre cuáles pacientes se beneficiarán de realizar estudios genéticos para el diagnóstico correcto de diabetes. Según diversas series, entre un 50 y un 80% de los pacientes con diabetes monogénica no tienen un diagnóstico o un tratamiento correcto. [ABSTRACT FROM AUTHOR]

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