hrp0084p2-268 | Diabetes | ESPE2015

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

Sechko Elena , Zilberman Lubov , Ivanova Olga , Kuraeva Tamara , Peterkova Valentina

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 gluco...

hrp0084p3-740 | Diabetes | ESPE2015

Mody3 Early Identification and Diagnosis

Zilberman Lyubov , Sechko Elena , Sapunova Svetlana , Ivanova Olga , Kuraeva Tamara

Background: MODY is monogenic. About 1% of diabetes has a monogenic cause but is frequently misdiagnosed as DM1 or DM2.Objective and hypotheses: It is important to study family history of patients with atypical diabetes forms for verification of diagnosis and prognosis.Method: Genetic, biochemical and hormonal testing, 2 patients were examined.Results: At pre-school medical examination a general practitioner ...

hrp0097p2-64 | Diabetes and Insulin | ESPE2023

Neonatal diabetes mellitus in a patient with a novel heterozygous mutation in GATA6

Sechko Elena , Raykina Elizaveta , Kuraeva Tamara , Laptev Dmitriy , Bezlepkina Olga , Peterkova Valentina

Transient neonatal diabetes mellitus (TNDM) occurs in 50-60% of all cases of neonatal diabetes mellitus (NDM). The most common cause of TNDM (70%) is almost invariably associated with defect in chromosome 6 and mutations in the KCNJ11, ABCC8, INS, NHF1B etc. genes. TNDM is caused by mutations in the GATA6 gene in rare cases. This gene encodes a transcription factor that is important for the development of the hematopoietic, cardiac and gastrointestinal systems.<p class="ab...