Incidental cause of mild hyperglycemia in children: Genetic, clinical, and follow-up features of glucokinase-MODY diabetes
| dc.contributor.author | Dündar, İsmail | |
| dc.date.accessioned | 2024-08-04T19:42:43Z | |
| dc.date.available | 2024-08-04T19:42:43Z | |
| dc.date.issued | 2023 | |
| dc.department | İnönü Üniversitesi | en_US |
| dc.description.abstract | Aim: This study aimed to present the genetic, clinical, and follow-up data of our pa- tients diagnosed with glucokinase (GCK)-MODY. Type 2 Maturity Onset Diabetes of the Young (MODY) is a monogenic disease characterized by fasting hyperglycemia resulting from impaired insulin secretion. It constitutes the vast majority of cases with monogenic diabetes. Materials and Methods: In the study, clinical, follow-up, and genetic data of 13 patients who were followed up with the diagnosis of MODY type 2 diabetes and had mutations in the GCK gene in their molecular analyses were studied. GCK whole gene sequence analysis was performed with Sanger sequencing. Results: The age at diagnosis was median 11.0 years (range: 2.5–16.9). High blood sugar was the most common reason for admission (84.6%). At the time of diagnosis, the patients’ mean blood sugar was 137.0±52.4 mg/dL, insulin 6.1±2.8 mU/L, c-peptide 1.4±0.6 ng/mL, triglyceride 106.1±42.3 mg/dL, and cholesterol 154.0±19.0 mg/dL. While HbA1c was 6.3±0.4 at the time of diagnosis, it was 6.2±0.4 at the end of the mean 5-year follow-up (p=0.073). Molecular analysis revealed the most common variant as c.565A>G (p.I189Val) (53.8%). In all cases, glucose levels were regulated by diet and exercise, and there was no need for insulin. Conclusion: Incidental blood glucose elevation was an important finding in diagnosing GCK-MODY. With the molecular diagnosis of these patients, clinical follow-ups, treat- ment plans, and long-term prognoses can be planned more accurately. Therefore, in doubtful cases, the genetic diagnosis should be confirmed by sequencing the GCK gene. | en_US |
| dc.identifier.doi | 10.5455/annalsmedres.2022.11.332 | |
| dc.identifier.endpage | 242 | en_US |
| dc.identifier.issn | 2636-7688 | |
| dc.identifier.issue | 2 | en_US |
| dc.identifier.startpage | 238 | en_US |
| dc.identifier.trdizinid | 1162264 | en_US |
| dc.identifier.uri | https://doi.org/10.5455/annalsmedres.2022.11.332 | |
| dc.identifier.uri | https://search.trdizin.gov.tr/yayin/detay/1162264 | |
| dc.identifier.uri | https://hdl.handle.net/11616/88604 | |
| dc.identifier.volume | 30 | en_US |
| dc.indekslendigikaynak | TR-Dizin | en_US |
| dc.language.iso | en | en_US |
| dc.relation.ispartof | Annals of Medical Research | en_US |
| dc.relation.publicationcategory | Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.title | Incidental cause of mild hyperglycemia in children: Genetic, clinical, and follow-up features of glucokinase-MODY diabetes | en_US |
| dc.type | Article | en_US |
