AllaOvsyannikova, Oksana Rymar, Elena Shahshneider, Vladimir Maksimov and Mikhail Voevoda
Siberian Branch of the Russian Academy of Medical Sciences, Russia
Posters-Accepted Abstracts: J Diabetes Metab
The aim of the research work was to investigate clinical and laboratory characteristics, effects of therapy in patients with MODY diabetes. Materials and Methods: We diagnosed MODY 2 diabetes in 5 families (8 patients) by molecular GCKsequence analysis. Laboratory tests were carried out by standard methodology in the clinical laboratory of the Institute of Internal Medicine. Results: We report five heterozygous GCKmutations in three young boys, 1 girl, 1 newborn (it is the first reported case in this age), two young woman, 1 men with hyperglycemia. We report a novel heterozygous inactivating GCK gene mutation.2 patients use oral hypoglycemic drugs in very low doses, 2 use insulin by low doses (1 of them use insulin in pregnancy), 4 patients followed a diet. All patients have target values for blood glucose and glycated hemoglobin. Nobody have any diabetic complications. Both young woman have thyroid disease, all boys have allergy. Conclusions: 1. MODY 2 diabetes can be diagnosed from birth and all newborns in family with MODY should be done molecular GCKanalysis. 2. MODY 2 diabetes has stable mild course.
Email: aknikolaeva@bk.ru
