Symposium 1: Monogenic diabetes

Abstract

Symposium 1: When diabetes is not autoimune Monogenic diabetes A precise diagnosis of a diabetes subtype (DM) is extremely important. This is evident on the case of neonatal DM, a small DM subgroup which is diagnosed before 6 months of age. Diabetes caused by mutations on the inward rectifier potassium channels Kir6.2 is an extraordinary example of pharmacogenetics because switching to an insulin treatment by high-dose sulfonylureas improves not only glycemic control but also neurological diagnose. The diagnosis of DM subtypes becomes more difficult for adolescents and young adults (20-40 years old). For this age group, the algorithm proposed by Florez, which takes into account the phenotype, C-peptide, the presence of autoantibodies and T1D's genetic risk score, is very useful and can diagnose the most frequent subtype of monogenetic DM: Maturity onset diabetes of the young (MODY). MODY is an heterogenous condition, from a genetic, metabolic and clinical perspective and its common and triggering factor is insulin hyposecretion.

Keywords

• diabetes
• diagnóstico.