Phenotype Heterogeneity in Glucokinase–Maturity-Onset Diabetes of the Young (GCK-MODY) Patients
Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2017, Vol 9, Issue 3
Abstract
Objective: The aim of the study was to evaluate the clinical phenotypes of glucokinase-maturity-onset diabetes of the young (GCK-MODY) pediatric patients from Southwest Poland and to search for phenotype-genotype correlations. Methods: We conducted a retrospective analysis of data on 37 CGK-MODY patients consisting of 21 girls and 16 boys of ages 1.9-20.1 (mean 12.5±5.2) years, treated in our centre in the time period between 2002 and 2013. Results: GCK-MODY carriers were found in a frequency of 3% among 1043 diabetes mellitus (DM) patients and constituted the second most numerous group of DM patients, following type 1 DM, in our centre. The mean age of GCK-MODY diagnosis was 10.4±4.5 years. The findings leading to the diagnosis were impaired fasting glucose (IFG) (15/37), symptoms of hyperglycemia (4/37), and a GCK-MODY family history (18/37). Mean fasting blood glucose level was 6.67±1.64 mmol/L. In the sample, there were patients with normal values (4/37), those with DM (10/37), and IFG (23/37). In OGTT, 120 min glucose level was normal in 8, diabetic in 2, and characteristic for glucose intolerance in 27 of the 37 cases. Twelve of the 37 cases (32%) were identified as GCK-MODY carriers. In the total group, mean C-peptide level was 2.13±0.65 ng/mL and HbA1c was 6.26±0.45% (44.9±-18 mmol/mol). Thirty-two patients had a family history of DM. DM autoantibodies were detected in two patients. The most common mutations were p.Gly318Arg (11/37) and p.Val302Leu (8/37). There was no correlation between type of mutations and plasma glucose levels. Conclusion: The phenotype of GCK-MODY patients may vary from those characteristic for other DM types to an asymptomatic state with normal FG with no correlation with genotype.
Authors and Affiliations
Anna Wędrychowicz, Ewa Tobór, Magdalena Wilk, Katarzyna Wzorek, Barbara Sabal, Małgorzata Stelmach, Jerzy B. Starzyk
Keywords
Related Articles
- EP ID EP223888
- DOI 10.4274/jcrpe.4461
- Views 208
- Downloads 0
A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome
Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in individuals with 46,XY karyotype. PMDS is characterized by normal male phen...
Restless Legs Syndrome and Poor Sleep Quality in Obese Children and Adolescents
Objective: Adult epidemiological studies suggest that the rate of Restless Legs syndrome (RLS) in the general population may range from 5% to 15%. The aim of this study was to investigate the frequency of RLS in a commun...
Prevalence of ZnT8 Antibody in Turkish Children and Adolescents with New Onset Type 1 Diabetes
Objective: Zinc transporter 8 protein (ZnT8A) is a transmembrane protein which functions to transfer zinc to insulin vesicles. Antibodies formed against ZnT8A (ZnT8A) are regarded as an independent autoimmunity demonstra...
Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
Objective: Classic congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is characterized by increased prenatal adrenal androgen secretion. There are a small number of reports in the literature show...
An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression
The pancreatic ATP-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabet...