Neonatal Diabetes Mellitus

Beltrand, Jacques; Busiah, Kanetee; Vaivre‐Douret, Laurence; Fauret, A L; Berdugo, Marianne; Cavé, Hélène; Polak, Michel

doi:10.3389/fped.2020.540718

Cited by 64 publications

(68 citation statements)

References 46 publications

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“…The SUR1 subunits are the binding site of sulphonylureas (that induce insulin secretion by having an inhibitory effect on the KATP channel) and diazoxide (that abolishes insulin release by opening the KATP channel) (Gribble and Reimann, 2003, Ashcroft and Gribble, 2000, Ashcroft, 2005. As previously discussed, despite the presence of the activating SUR1 mutations, the mutated KATP channel can still be closed in response to sulphonylureas, indicating that most patients with ABCC8 mutations may be treated with this oral antidiabetic medication rather than insulin (Beltrand et al, 2020).…”

Section: Molecular Phenotypementioning

confidence: 97%

“…This may be explained by the location and type of the ABCC8 mutation or by the influence of other genetic or environmental factors (Reilly et al, 2020). Interestingly, it has been demonstrated that the mutated KATP channels remain sensitive to sulfonylureas in 90% of cases (Beltrand et al, 2020). This indicate that sulphonylureas can be used to control glycemia in patients with MODY 12 or neonatal diabetes caused by both ABCC8 and KCNJ11 mutations (see below).…”

Section: Genetic Alteration and Clinical Phenotypementioning

confidence: 99%

“…In these individuals the sulfonylureas therapy is safe and showed to be successful in most patients, inducing insulin secretion in response to a meal. Garcin and co-workers showed that the success of the treatment depends on the pharmacogenetics, pharmacokinetics, treatment compliance, maximal dose used, and patient's age (Beltrand et al, 2020, Garcin et al, 2020.…”

Section: Genetic Alteration and Clinical Phenotypementioning

confidence: 99%

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Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes

Caballero

Gorgogietas

Arroyo

et al. 2021

International Review of Cell and Molecular Biology

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Monogenetic forms of diabetes represent 1% to 5% of all diabetes cases and are caused by mutations in a single gene. These mutations, affecting genes involved in pancreatic β-cell development, function and survival or insulin regulation, may be dominant or recessive, inherited or de novo. Most patients with monogenic diabetes are very commonly misdiagnosed as having type 1 or type 2 diabetes. The abundance of each monogenic form of the disease and the severity of their symptoms depend on the nature of the mutation, the function of the affected gene and, in some cases, the influence of additional genetic or environmental factors that modulate severity and penetrance. In some patients, diabetes is accompanied by other syndromic features such as deafness, blindness, microcephaly, liver and intestinal defects, between others. The age of diabetes onset may also vary from neonatal presentations until early adulthood manifestations. Since the different mutations result in diverse clinical presentations, patients usually need different treatments that range from just diet and exercise, to the requirement of exogenous insulin or other hypoglycaemic drugs e.g. sulfonylureas or glucagon like peptide 1 analogs to control their normoglycemia. As a consequence, awareness and correct diagnosis are crucial for the proper management and treatment of monogenic diabetes patients. In this chapter, we describe mutations causing different monogenic forms of diabetes associated with inadequate pancreas development or impaired β-cell function and survival, and discuss the molecular mechanisms involved in β-cell demise.

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Section: Molecular Phenotypementioning

confidence: 97%

Section: Genetic Alteration and Clinical Phenotypementioning

confidence: 99%

Section: Genetic Alteration and Clinical Phenotypementioning

confidence: 99%

See 1 more Smart Citation

Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes

Caballero

Gorgogietas

Arroyo

et al. 2021

International Review of Cell and Molecular Biology

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“…Cardiac malformations, renal and urinary malformations, nonautoimmune anaemia, hypothyroidism with gland in situ and neurological disorders may also be associated. Insulin-based treatment is necessary but is difficult to manage due to the low birth weight [ 39 ].…”

Section: Transient Neonatal Diabetes Mellitus 1 (Tndm 1; 6q24)mentioning

confidence: 99%

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network

Eggermann

Davies

Tauber

et al. 2021

Genes

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Intrauterine and postnatal growth disturbances are major clinical features of imprinting disorders, a molecularly defined group of congenital syndromes caused by molecular alterations affecting parentally imprinted genes. These genes are expressed monoallelically and in a parent-of-origin manner, and they have an impact on human growth and development. In fact, several genes with an exclusive expression from the paternal allele have been shown to promote foetal growth, whereas maternally expressed genes suppress it. The evolution of this correlation might be explained by the different interests of the maternal and paternal genomes, aiming for the conservation of maternal resources for multiple offspring versus extracting maximal maternal resources. Since not all imprinted genes in higher mammals show the same imprinting pattern in different species, the findings from animal models are not always transferable to human. Therefore, human imprinting disorders might serve as models to understand the complex regulation and interaction of imprinted loci. This knowledge is a prerequisite for the development of precise diagnostic tools and therapeutic strategies for patients affected by imprinting disorders. In this review we will specifically overview the current knowledge on imprinting disorders associated with growth retardation, and its increasing relevance in a personalised medicine direction and the need for a multidisciplinary therapeutic approach.

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“…However, glycaemic instability and hyperglycaemia remain in these infants even at the time of discharge (1,(8)(9)(10)(11)(12)(13)(14)(15)(16). Hyperglycaemia is also prevalent in infants following hypoxic ischaemic (HI) insults (18), associated with sepsis and in neonatal diabetes which has recently been reviewed (19). The use of systemic steroids, inotropes, and caffeine (20,21), as well as stress associated with intubations can also increase glucose levels (1).…”

Section: Introductionmentioning

confidence: 99%

Hyperglycaemia in the Newborn Infant. Physiology Verses Pathology

Beardsall

2021

Front. Pediatr.

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Hyperglycemia is common in newborns requiring intensive care, particularly in preterm infants, in sepsis and following perinatal hypoxia. The clinical significance, and optimal intervention strategy varies with context, but hyperglycaemia is associated with increased mortality and morbidity. The limited evidence for optimal clinical targets mean controversy remains regarding thresholds for intervention, and management strategies. The first consideration in the management of hyperglycaemia must be to ascertain potentially treatable causes. Calculation of the glucose infusion rate (GIR) to insure this is not excessive, is critical but the use of insulin is often helpful in the extremely preterm infant, but is associated with an increased risk of hypoglycaemia. The use of continuous glucose monitoring (CGM) has recently been demonstrated to be helpful in targeting glucose control, and reducing the risk from hypoglycaemia in the preterm infant. Its use in other at risk infants remains to be explored, and further studies are needed to provide a better understanding of the optimal glucose targets for different clinical conditions. In the future the combination of CGM and advances in computer algorithms, to provide intelligent closed loop systems, could allow a safer and more personalized approached to management.

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Neonatal Diabetes Mellitus

Cited by 64 publications

References 46 publications

Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes

Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network

Hyperglycaemia in the Newborn Infant. Physiology Verses Pathology

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