ESPE Abstracts

The purpose: To identify the clinical features of MODY-GCK diabetes which we need to follow of this group of patients.

Materials and methods: We examined 35 patients under the age of 18 years with impaired carbohydrate metabolism. Inclusion criteria were: diagnosed carbohydrate metabolism disorder or diabetes mellitus (DM), normal weight, family history of diabetes, no antibodies, normal or slightly decreased C-peptide level for at least 2 years, absence of ketoacidosis. We diagnosed MODY-GCK diabetes during the molecular genetic testing (direct automatic sequencing) of glucokinase gene. All patients had a full clinical examination, blood samples for biochemical research, determination of C-peptide and TSH, antibodies to b-cells, GAD, microalbuminuria, abdominal ultrasound, heart and thyroid ultrasound, examination of ophthalmologist.

Results: We identified MODY-GCK in 15 patients (43%). Patients with MODY-GCK were 7 boys (47%) and 8 (53%) girls, median of age of onset was 8 years (1;17). 12 (80%) of 15 patients with MODY-GCK had not clinical manifestations of disorders of carbohydrate metabolism at the time of debut. All patients had fasting hyperglycemia and 2 hours after a meal – a small increase in blood glucose levels. Overweight and obesity were not detected in any patient. 1 (7%) patient had diabetic peripheral neuropathy. 2 (13%) patients had thyroid pathology, 5 (33%) – the presence of allergic reactions, and 1 (7%) – a disease of the gastrointestinal tract among the comorbid conditions. 2 (13%) patients use small doses insulin (now doctors are trying to transfer them to sulfonylureas), 1 (7%) – oral hypoglycemic agents (before diagnosis of MODY he use insulin) and 12 (80%) – a balanced diet. 13 (87%) patients with MODY-GCK diabetes had targets levels of HbA1c, C-peptide level was below the reference values, anti-b-cells were not detected.

Conclusions: (1) MODY-GCK diabetes had oligosymptomatic onset, soft flow, good compensation of carbohydrate metabolism, no complications. (2) Most patients with MODY-GCK achieve carbohydrate metabolism targets by diet, with confirmation of this type of diabetes it is possible to try to transfer patients from insulin to tablets which improves the quality of life and reduces the cost of diabetes. The reported study was supported by RSCF, research project No. 14-15-00496-P.