ESPE Abstracts (2015) 84 P-2-268

MODY-GCK and MODY-HNF1A in Children and Adolescents in Russian Population

Elena Sechkoa, Lubov Zilbermana,b, Olga Ivanovab, Tamara Kuraevaa,b & Valentina Peterkovaa,b


aI.M. Sechenov First Moscow State Medical University, Moscow, Russia; bEndocrinology Research Centre, Moscow, Russia


Background: The most common forms of maturity-onset diabetes of the young (MODY) are MODY-GCK and MODY-HNF1A. Prevalence of MODY in Russian population is unknown.

Aims and objectives: To compare clinical laboratory characteristics of MODY-GCK and MODY-HNF1a in children and adolescents, to estimate prevalence of MODY.

Method: 151 children and adolescents were screened for mutations in GCK and HNF1A. HbA1c, fasting and stimulated glucose, C-peptide, insulin levels (OGTT) were measured. The data is presented as medians (25; 75 percentile). Mann–Whitney U-test was used to compare medians.

Results: We identified GCK mutations in 54 patients (35.7%), HNF1A mutations in 19 patients (12.5%). The prevalence MODY-GCK was 2.8 times higher than MODY-HNF1A. MODY-GCK patients were younger than MODY-HNF1A at the time of diagnosis with diabetes, (8.0 years (4.0; 11.3) vs 11.8 years (9.7; 13.5), P<0.01). HbA1c was lower in MODY-GCK (6.5% (6.1; 6.7) vs 6.8% (6.5; 7.8), P<0.05). MODY was confirmed by genetic analysis at 12.4 years (9.1; 15.4). Fasting glucose level was higher in MODY-GCK, 16.3% of patients MODY-GCK and 68.8% of patients MODY-HNF1A had normal fasting glycaemia. Stimulated glucose level was lower in MODY-GCK: 18.2% of patients had diabetes, 65.9% – impaired glucose tolerance, 15.9% – normal glucose tolerance. All MODY-HNF1A patients had diabetes. Fasting serum C-peptide and insulin didn’t differ between MODY-GCK and MODY-HNF1A. Stimulated serum C-peptide and insulin were significantly higher in MODY-GCK than MODY-HNF1A (C-peptide: 1 h – 5.8 ng/ml (4.5; 7.6) vs 3.5 ng/ml (2.9; 5.1), P<0.05, 2 h – 5.9 ng/ml (4.6; 8.2) vs 4.7 ng/ml (3.8; 5.7), P<0.05. Insulin: 1 h – 49.1 U/l (32.6; 64.9) vs 21.9 U/l (19.4; 39.8), P<0.05, 2 h – 35.4 U/l (24.4; 54.7) vs 23.8 U/l (16.2; 37.9), P<0.05).

Conclusion: The prevalence MODY-GCK was 2.8 times higher than MODY-HNF1A in Russian population. Patients with MODY-GCK were diagnosed earlier than MODY-HNF1A, and had milder presentation and higher stimulated C-peptide and insulin to compare to MODY-HNF1A.

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