Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype

Flanagan, Sarah E.; Mackay, Deborah J G; Greeley, Siri Atma W.; McDonald, Timothy J.; Mericq, Verónica; Hassing, Jeanne M.; Richmond, Erick; Martin, W. R. Wayne; Acerini, Carlo L.; Kaulfers, A. M.; Flynn, Daniel; Popović, Jadranka; Sperling, Mark A.; Hussain, Khalid; Ellard, Sian; Hattersley, Andrew T.

doi:10.1007/s00125-012-2766-z

Cited by 25 publications

(22 citation statements)

References 9 publications

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“…One third of patients show macroglossia and, more rarely, an umbilical hernia is present. Following remission, a low proportion of patients will exhibit clinically significant hypoglycemia that in some cases requires long‐term treatment . During remission, transient hyperglycemia may occur during intercurrent illnesses .…”

Section: Ndm Diabetes Diagnosed Within the First 6 To 12 Months Of Lifementioning

confidence: 99%

“…Following remission, a low proportion of patients will exhibit clinically significant hypoglycemia that in some cases requires long-term treatment. 49,50 During remission, transient hyperglycemia may occur during intercurrent illnesses. 51 Over time, diabetes relapses in at least 50% to 60% of patients and even in more than 85% in one large cohort, 52 usually around puberty, although recurrences have been reported as young as 4 years of age.…”

Section: Transient Neonatal Diabetes From Imprinting Anomalies On 6q24mentioning

confidence: 99%

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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

et al. 2018

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Section: Ndm Diabetes Diagnosed Within the First 6 To 12 Months Of Lifementioning

confidence: 99%

Section: Transient Neonatal Diabetes From Imprinting Anomalies On 6q24mentioning

confidence: 99%

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

et al. 2018

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“…Genomic imprinting is the epigenetic phenomena when genes are expressed based on parent of origin of the allele. Changes in DNA methylation resulting from genomic imprinting have been linked to 6q24 transient neonatal diabetes, where patients with transient neonatal diabetes have decreased methylation of the maternal allele at the 6q24 locus . In these patients, diabetes resolves after several months of life; however, the underlying mechanism remains to be completely elucidated.…”

Section: Dna Methylation and Its Role In The Regulation Of Gene Exprementioning

confidence: 99%

DNA methylation and its role in the pathogenesis of diabetes

2017

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Although the factors responsible for the recent increase in the prevalence of diabetes worldwide are not entirely known, the morbidity associated with this disease results in substantial health and economic burden on society. Epigenetic modifications, including DNA methylation have been identified as one mechanism by which the environment interacts with the genome and there is evidence that alterations in DNA methylation may contribute to the increased prevalence of both Type 1 and Type 2 diabetes. This review provides a summary of DNA methylation and its role in gene regulation, and includes descriptions of various techniques to measure site-specific and genome wide DNA methylation changes. In addition, we review current literature highlighting the complex relationship between DNA methylation, gene expression, and the development of diabetes and related complications. In studies where both DNA methylation and gene expression changes were reported, DNA methylation status had a strong inverse correlation with gene expression, suggesting that this interaction may be a potential future therapeutic target. We highlight the emerging use of genome wide DNA methylation profiles as a biomarker to predict patients at risk of developing diabetes or specific complications of diabetes. Developing a predictive model that incorporates both genetic information and DNA methylation changes may be an effective diagnostic approach for all types of diabetes and could lead to additional innovative therapies.

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“…Clinical, biological, and evolution characteristics are useful tools in defining the molecular diagnosis. For babies with transient diabetes, regular follow-up, particularly in the first years of life is highly recommended because symptomatic hypoglycemia or recurrent hyperglycemia can be present during banal infections events (6). …”

Section: Discussionmentioning

confidence: 99%

6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results

et al. 2016

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Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide). Insulin infusion, initially intravenously and then subcutaneously, was started, tailored to assure the growth catch-up and normalize the blood sugar levels. At the age of 4 weeks, the baby returned at home under pump. At 8 weeks, the clinical impression of evolution to a transient diabetes (decreasing needs of insulin with very satisfactory weight gain) was genetically confirmed (paternal uniparental disomy of chromosome 6). There is no screening for neonatal diabetes, but the clinical suspicion avoids the metabolic decompensation and allows early initiation of insulin therapy. The genetic approach (for disease itself and its associated features) relies on timely clinical updates.

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Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype

Abstract: Artículo de publicación IS

Cited by 25 publications

References 9 publications

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

DNA methylation and its role in the pathogenesis of diabetes

6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results

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