Seniscal-Arredondo D, Merino-Rivera JA, Díaz-Greene EJ, Rodríguez-Weber FL

Language: Spanish
References: 15
Page: 1008-1114
PDF size: 238.53 Kb.

ABSTRACT

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.

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