Phenotype heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) patients
| Autor: | Ewa Tobor, Jerzy Starzyk, Anna Rams, Magdalena Wilk, Ewa Ziółkowska-Ledwith, Anna Wędrychowicz, Małgorzata Stelmach, Katarzyna Wzorek, Barbara Sabal |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
medicine.medical_specialty Adolescent phenotype Endocrinology Diabetes and Metabolism genotype 030209 endocrinology & metabolism Glucokinase-Maturity-Onset Diabetes of the Young 030204 cardiovascular system & hematology Asymptomatic Gastroenterology Maturity onset diabetes of the young 03 medical and health sciences 0302 clinical medicine Endocrinology children Diabetes mellitus Internal medicine Genotype Glucokinase medicine Humans adolescents Family history Child Retrospective Studies GCK-MODY business.industry Retrospective cohort study medicine.disease Impaired fasting glucose Diabetes Mellitus Type 2 Pediatrics Perinatology and Child Health Female Original Article medicine.symptom business |
| Zdroj: | Journal of Clinical Research in Pediatric Endocrinology |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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