Phenotype Heterogeneity in Glucokinase–Maturity-Onset Diabetes of the Young (GCK-MODY) Patients

• DOI: 10.4274/jcrpe.4461
• Publication Date: 2017-06-29T07:34:02Z
• Authors: Anna Wedrychowicz; Ewa Tobór; Magdalena Wilk; Ewa Ziólkowska-Le...; Anna Rams; Katarzyna Wzorek; Barbara Sabal; Malgorzata Stelmach; Jerzy B. Starzyk
• Keywords: Glucokinase

The aim of the study was to evaluate clinical phenotypes glucokinase-maturity-onset diabetes young (GCK-MODY) pediatric patients from Southwest Poland and search for phenotype-genotype correlations.We conducted a retrospective analysis data on 37 CGK-MODY consisting 21 girls 16 boys ages 1.9-20.1 (mean 12.5±5.2) years, treated in our centre time period between 2002 2013.GCK-MODY carriers were found frequency 3% among 1043 mellitus (DM) constituted second most numerous group DM patients, following type 1 DM, centre. mean age GCK-MODY diagnosis 10.4±4.5 years. findings leading impaired fasting glucose (IFG) (15/37), symptoms hyperglycemia (4/37), family history (18/37). Mean blood level 6.67±1.64 mmol/L. In sample, there with normal values those (10/37), IFG (23/37). OGTT, 120 min 8, diabetic 2, characteristic intolerance 27 cases. Twelve cases (32%) identified as carriers. total group, C-peptide 2.13±0.65 ng/mL HbA1c 6.26±0.45% (44.9±-18 mmol/mol). Thirty-two had DM. autoantibodies detected two patients. common mutations p.Gly318Arg (11/37) p.Val302Leu (8/37). There no correlation plasma levels.The phenotype may vary other types an asymptomatic state FG genotype.