IMPE Abstracts

Monogenic diabetes is a group of diabetes subtypes that can be classified as neonatal diabetes and maturity onset diabetes of the young. Here we present 12 confirmed patients for monogenic diabetes at the Hospital Universitario del Valle at Cali, Colombia from 2014 to the present year from our total population of 412 patients with CIE10 diagnosis of diabetes in patients under the age of 18 years of age. Here we documented mutations associated with MODY on the GCK gene for 3 patients, 3 siblings with homozygous mutation for ABCC8 who are also carriers for KCNJ11 mutation, one patient with three mutations (HNF1A, PAX4 and ABCC8) and one patient with HNF4A, GCK and PDX1 mutations. We also present 3 patients with mutations associated with neonatal diabetes, one with GATA6 gene mutation, another with INS gene mutation and the most recent one with FOXP3 and KIRREL1 genes mutation. Each of this patients have had a different course of the disease with different forms of treatment which varies from low-dose insulin treatment to oral hypoglycemic medications and other with diet and exercise adjustments. New literature proposes a new diabetes mellitus classification based on the genetic mutations of each patient rather than the actual classification due to the unlikely cases that have been documented. We support this new tendency based on these patients and the fact that some of these patients with the actual classification have shown gene mutations that their treatment differs from the indicated in different guidelines.