Cardiovascular risk assessment by coronary artery calcium score in subjects with maturity-onset diabetes of the young caused by glucokinase mutations

Franco, Luciana Ferreira; Szarf, Gilberto; Dotto, Renata Pires; Dib, Sérgio Atala; Moisés, Regina S.; Giuffrida, Fernando de Mello Almada; Reis, André

doi:10.1016/j.diabres.2021.108867

Cited by 6 publications

(6 citation statements)

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“…A total of 3860 records were retrieved from our primary search (1186, 2526, and 148 records from Ovid Medline, Embase, and the Cochrane Library, respectively), yielding 544 eligible articles. Of these, 32 studies were finally included in the systematic review 2 , 6 , 12 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 (Supplementary Figure S1 in Appendix S1 ). There were 23 and 14 articles that compared GCK‐MODY with HNF1A‐MODY (HNF1A‐MODY studies) and type 2 diabetes (type 2 diabetes studies), respectively.…”

Section: Resultsmentioning

confidence: 99%

Insights from basic adjunctive examinations of GCK‐MODY, HNF1A‐MODY, and type 2 diabetes: A systemic review and meta‐analysis

Liu

Xiao

Zhang

et al. 2023

Journal of Diabetes

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Background: Glucokinase maturity-onset diabetes of the young (GCK-MODY) is difficult to distinguish from other diabetic forms. This article aims to characterize the differences in results from routine examinations between GCK-MODY and hepatocyte nuclear factor 1-α (HNF1A)-MODY or type 2 diabetes (T2D) patients in different periods of diabetes.Methods: Ovid Medline, Embase, and the Cochrane Library were searched up until October 9, 2022 for articles containing baseline characteristics of GCK-MODY, HNF1A-MOFY, and T2D, excluding pregnant women. The pooled standardized mean differences were derived using a random-effects model. Results: Compared to HNF1A-MODY, GCK-MODY patients had lower indicators of glucose metabolism. Total triglycerides (TG) (À0.93 [À1.66, À0.21] mmol/l) were consistently lower in GCK-MODY patients in the all-familymembers subgroup analysis. Compared to T2D, GCK-MODY patients were younger at diagnosis and had lower body mass index (BMI), lower highsensitivity C-reactive protein (hsCRP) (À0.60 [À0.75, À0.44] mg/l), lower fasting C-peptide (FCP), and lower 2-hour postprandial glucose (2-h PG). Indicators of glycated hemoglobin (HbA1c) and fasting blood glucose (FPG) were consistently lower in subgroup studies with all family members of GCK-MODY patients as well.Conclusions: Lower HbA1c, FPG, 2-h PG, and change in 2-h PG may help to diagnose GCK-MODY differentially from HNF1A-MODY at an early stage, and lower TG may strengthen such a diagnosis in the follow-up stages. Younger age combined with lower BMI, FCP, hsCRP, and 2-h PG may be useful to distinguish GCK-MODY from MODY-like T2D, whereas results of glucoseThe registration number: reviewregistry1456 (Research Registry).

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Section: Resultsmentioning

confidence: 99%

Insights from basic adjunctive examinations of GCK‐MODY, HNF1A‐MODY, and type 2 diabetes: A systemic review and meta‐analysis

Liu

Xiao

Zhang

et al. 2023

Journal of Diabetes

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“…This study presents relevant data about pancreatic beta‐cell function in patients with GCK diabetes and patients with HNF1A and KCNJ11 diabetes after successful treatment optimization. GCK diabetes is considered to be a distinct type of genetically caused beta‐cell disorders, as it presents with stable hyperglycaemia throughout life, the prevalence of vascular complications being similar to general population, and most importantly it does not need any treatment, except specific cases in pregnancy, depending on the fetal status 9,13–15 . However, HNF1A and KCNJ11 manifest with different clinical presentations from biochemical hyperglycaemia to severe diabetic ketoacidosis especially in neonates with KCNJ11 mutations 6,13 .…”

Section: Discussionmentioning

confidence: 99%

“…GCK diabetes is considered to be a distinct type of genetically caused beta‐cell disorders, as it presents with stable hyperglycaemia throughout life, the prevalence of vascular complications being similar to general population, and most importantly it does not need any treatment, except specific cases in pregnancy, depending on the fetal status. 9 , 13 , 14 , 15 However, HNF1A and KCNJ11 manifest with different clinical presentations from biochemical hyperglycaemia to severe diabetic ketoacidosis especially in neonates with KCNJ11 mutations. 6 , 13 Right molecular diagnosis guides to targeted individualized treatment in these patients, which not only improves the quality of life, but also diabetes control and HbA1c 16 , 17 ; however, there is still a gap in evidence about the real dynamics of pancreatic‐beta cell function after treatment switch.…”

Section: Discussionmentioning

confidence: 99%

Pancreatic beta‐cell function dynamics in youth with GCK , HNF1A , and KCNJ11 genes mutations during mixed meal tolerance test

et al. 2022

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Objective The aims were (1) to assess beta‐cell function in GCK diabetes patients over 2‐year period; (2) to evaluate the dynamics of beta‐cell function in HNF1A and KCNJ11 patients after treatment optimization; using mixed meal tolerance test (MMTT) as a gold standard for non‐invasive beta‐cell function assessment. Research Design and Methods Twenty‐two GCK diabetes patients, 22 healthy subjects, 4 patients with HNF1A and 2 with KCNJ11 were recruited. Firstly, beta‐cell function was compared between GCK patients versus controls; the dynamics of beta‐cell function were assessed in GCK patients with two MMTTs in 2‐year period. Secondly, the change of beta‐cell function was evaluated in HNF1A and KCNJ11 patients after successful treatment optimization in 2‐year period. Results GCK diabetes patients had lower area under the curve (AUC) of C‐peptide (CP), average CP and peak CP compared to controls. Also, higher levels of fasting, average, peak and AUC of glycemia during MMTT were found in GCK patients compared to healthy controls. No significant changes in either CP or glycemia dynamics were observed in GCK diabetes group comparing 1st and 2nd MMTTs. Patients with HNF1A and KCNJ11 diabetes had significantly improved diabetes control 2 years after the treatment was optimized (HbA1c 7.1% vs. 5.9% [54 mmol/mol vs. 41 mmol/mol], respectively, p = 0.028). Higher peak CP and lower HbA1c were found during 2nd MMTT in patients with targeted treatment compared to the 1st MMTT before the treatment change. Conclusion In short‐term perspective, GCK diabetes group revealed no deterioration of beta‐cell function. Individualized treatment in monogenic diabetes showed improved beta‐cell function.

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“…In the literature, we found only one study investigating the link between MODY and heart disease. However, it aimed to estimate cardiovascular risk by coronary artery calcification (CAC) score in 29 patients affected by MODY caused by glucokinase (GCK) mutations [ 22 ]. The authors found that the CAC score in GCK-MODY was similar to control individuals from the same family and household and is significantly lower than type 2 diabetes.…”

Section: Discussionmentioning

confidence: 99%

NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report

et al. 2021

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Background Maturity Onset Diabetes of the Young (MODY) is a monogenic, autosomal, dominant disease that results in beta-cells dysfunction with consequent hyperglycaemia. It represents a rare form of diabetes (1–2% of all the cases). Sulphonylureas (SUs) represent the first-line treatment for this form of diabetes mellitus. NEUROD1 is expressed by the nervous and the pancreatic tissues, and it is necessary for the proper development of beta cells. A neurogenic differentiation factor 1 (NEUROD1) gene mutation causes beta-cells dysfunction, inadequate insulin secretion, and hyperglycaemia (MODY 6). Case presentation We have documented a new missense mutation (p.Met114Leu c.340A > C) of the NEUROD1 gene, pathogenetic for diabetes mellitus, in a 48 years-old man affected by diabetes since the age of 25 and treated with insulin basal-bolus therapy. Unfortunately, an attempt to replace rapid insulin with dapagliflozin has failed. However, after the genetic diagnosis of MODY6 and treatment with SUs, he was otherwise able to suspend rapid insulin and close glucose monitoring. Interestingly, our patient had an early onset dilated cardiomyopathy, though no data about cardiac diseases in patients with MODY 6 are available. Conclusions Diagnostic criteria for MODY can overlap with other kinds of diabetes and most cases of genetic diabetes are still misdiagnosed as diabetes type 1 or 2. We encourage to suspect this disease in patients with a strong family history of diabetes, normal BMI, early-onset, and no autoimmunity. The appropriate therapy simplifies disease management and improves the quality of the patient’s life.

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Cardiovascular risk assessment by coronary artery calcium score in subjects with maturity-onset diabetes of the young caused by glucokinase mutations

Cited by 6 publications

References 41 publications

Insights from basic adjunctive examinations of GCK‐MODY, HNF1A‐MODY, and type 2 diabetes: A systemic review and meta‐analysis

Insights from basic adjunctive examinations of GCK‐MODY, HNF1A‐MODY, and type 2 diabetes: A systemic review and meta‐analysis

Pancreatic beta‐cell function dynamics in youth with GCK , HNF1A , and KCNJ11 genes mutations during mixed meal tolerance test

NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report

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