ArticleJournal of clinical research in pediatric endocrinology2017
Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.
Article in Journal of clinical research in pediatric endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 40 citations in OpenAlex.
- Beta cell function and insulin sensitivity in obese youth with maturity onset diabetes of youth mutations vs type 2 diabetes in TODAY: Longitudinal observations and glycemic failure.Pediatric diabetes · 2020 · on this mapTrial
- Case Report: New insights about clinical manifestations of patients withFrontiers in endocrinology · 2025Article
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- Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes.Communications medicine · 2024Article
- Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic Features.Clinical medicine insights. Endocrinology and diabetes · 2024Article
- Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young.Frontiers in endocrinology · 2024Review
- A comprehensive map of human glucokinase variant activity.Genome biology · 2023Article
- Glycaemic Imbalances in Seizures and Epilepsy of Paediatric Age: A Literature Review.Journal of clinical medicine · 2023Review
- GCK-MODY in pregnancy: A pregnant woman with diabetes and a small-for-gestational-age fetus.Clinical case reports · 2022Article
- When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?Archives of endocrinology and metabolism · 2022Article
- Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry.Journal of pediatric endocrinology & metabolism : JPEM · 2021Article
- Monogenic diabetes: a gateway to precision medicine in diabetes.The Journal of clinical investigation · 2021Review
- The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY).Clinical diabetes and endocrinology · 2020Review
- Detection and analysis of glucose metabolism-related genes in childhood diabetes using targeted next-generation sequencing: In pediatric population-a hospital-based study.Experimental and therapeutic medicine · 2020Article
- Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú.Clinical diabetes and endocrinology · 2020Article
- Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature.Annals of pediatric endocrinology & metabolism · 2019Article
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9 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
objectiveThe 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.
methodsWe 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.
resultsGCK-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.
conclusionThe 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.
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