Review on monogenic diabetes

Steck, Andrea K.; Winter, Wiliam E.

doi:10.1097/med.0b013e3283488275

Cited by 49 publications

(37 citation statements)

References 63 publications

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“…In the current study, the correlation of MetS Z-score with HbA1c was only significant among non-Hispanic-black and Hispanic adolescents and not among non-Hispanic-white adolescents. This may be because non-Hispanic-white adolescents had a greater prevalence of undiagnosed pathologies that cause HbA1c elevations independent of insulin resistance such as Type I diabetes and MODY (34–36). However, the MetS Z-score was significantly correlated with fasting insulin for all three racial/ethnic groups analyzed.…”

Section: Discussionmentioning

confidence: 99%

Examining trends in prediabetes and its relationship with the metabolic syndrome in US adolescents, 1999–2014

et al. 2017

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Introduction Prediabetes is a reversible state of glycemic abnormalities that is frequently associated with obesity and the metabolic syndrome (MetS). There has been controversy over determining the most effective methods of determining prediabetes status in adolescents. We sought to investigate temporal trends in prediabetes prevalence among U.S. adolescents using two definitions and evaluate relationships with obesity and a MetS-severity score. Methods We evaluated data from 5418 non-Hispanic-white, non-Hispanic-black, and Hispanic adolescents aged 12–19 participating in the National Health and Nutrition Examination Survey 1999–2014 with complete data regarding MetS and hemoglobin A1c (HbA1c). Prediabetes status was defined by American Diabetes Association (ADA) criteria: fasting glucose 100–125 mg/dL or HbA1c 5.7%–6.4%. MetS severity was assessed with a MetS-severity Z-score. Results Prevalence of prediabetes as defined by HbA1c abnormalities significantly increased from 1999–2014, while prevalence of prediabetes as defined by fasting glucose abnormalities showed no significant temporal trend. There were variations in these trends across different racial/ethnic groups. MetS Z-score was overall more strongly correlated with HbA1c, fasting insulin, and the homeostasis-model-of-insulin-resistance than was BMI Z-score. These correlations were true in each racial/ethnic group with the exception that in non-Hispanic-white adolescents, in whom the MetS Z-score was not significantly correlated to HbA1c measurements. Conclusion We found conflicting findings of temporal trends of U.S. adolescent prediabetes prevalence based on the ADA’s prediabetes criteria. The increasing prevalence of prediabetes by HbA1c assessment is concerning and raises the urgency for increased awareness and appropriate measures of prediabetes status among physicians and patients.

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Section: Discussionmentioning

confidence: 99%

Examining trends in prediabetes and its relationship with the metabolic syndrome in US adolescents, 1999–2014

et al. 2017

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“…The association of many of these islet-enriched proteins to MODY implies that their function is also conserved within humans (30). Notably, Mafa is distinct among this group of transcription factors in being uniquely produced at the onset of islet ␤-cell formation during development and exclusively within this embryonic and adult islet population.…”

Section: Discussionmentioning

confidence: 99%

Preserving Mafa Expression in Diabetic Islet β-Cells Improves Glycemic Control in Vivo

Matsuoka¹,

Kaneto²,

Kawashima³

et al. 2015

Journal of Biological Chemistry

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Background: MAFA expression is markedly decreased in islet ␤-cells of type 2 diabetes mellitus. Results: Mis-expression of Mafa in mouse diabetic db/db ␤-cells ameliorated glucose-stimulated insulin secretion and ␤-cell mass. Conclusion: Mafa alone is sufficient to improve ␤-cell function and mass under diabetic conditions. Significance: These results establish how consequential this transcription factor is to islet ␤-cells under pathological conditions.

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“…MODY can develop as the result of glucokinase (i.e. GCK) mutations and transcription factor mutations, and the different forms of MODY have different insulin reserves [17]. It is known that in HNF1A/4A-MODY, reduced beta-cell proliferation and increased apoptosis cause a progressive decline in C-peptide.…”

Section: Discussionmentioning

confidence: 99%

Urinary C-Peptide/Creatinine Ratio Can Distinguish Maturity-Onset Diabetes of the Young from Type 1 Diabetes in Children and Adolescents: A Single-Center Experience

Ağladıoğlu

Sağsak

Aycan³

2015

Horm Res Paediatr

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Background: The urinary C-peptide/creatinine ratio (UCPCR) and fasting C-peptide level can assess beta-cell function in clinical practice. In the present study, the use of the UCPCR and fasting C-peptide levels was investigated in the differential diagnosis between maturity-onset diabetes of the young (MODY) and type 1 diabetes mellitus (T1DM). Methods: Twenty-seven patients with genetically confirmed MODY by next-generation sequence analysis and 42 children with T1DM were included. C-peptide levels were measured after an overnight fast before breakfast, and urine samples were collected 2 h after a standard lunch in the hospital. Results: The UCPCR in the T1DM group was 0.17 ± 0.5 nmol/mmol, and in the MODY group it was 1.27 ± 1.03 nmol/mmol (p = 0.001). The receiver operating characteristic (ROC) curves showed excellent discrimination (area under the curve 0.93). A UCPCR ≥0.22 nmol/mmol yielded a 96.3% sensitivity and an 85.7% specificity. The fasting C-peptide level in the T1DM group was lower than that in the MODY group (p = 0.001). The fasting C-peptide cutoff determined by ROC curve analysis was 0.62 ng/ml, with a sensitivity of 93% and a specificity of 90% for discriminating between MODY and T1DM. Conclusions: We showed that the UCPCR and fasting C-peptide levels in children and adolescents can distinguish patients with MODY from patients with T1DM with high specificity and sensitivity. A value of UCPCR ≥0.22 nmol/mmol may indicate further genetic testing for MODY.

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Review on monogenic diabetes

Abstract: The discovery of the genetic cause of monogenic diabetes has greatly advanced our understanding and management of these uncommon forms of diabetes.

Cited by 49 publications

References 63 publications

Examining trends in prediabetes and its relationship with the metabolic syndrome in US adolescents, 1999–2014

Examining trends in prediabetes and its relationship with the metabolic syndrome in US adolescents, 1999–2014

Preserving Mafa Expression in Diabetic Islet β-Cells Improves Glycemic Control in Vivo

Urinary C-Peptide/Creatinine Ratio Can Distinguish Maturity-Onset Diabetes of the Young from Type 1 Diabetes in Children and Adolescents: A Single-Center Experience

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