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2.1
Neonatal Diabetes Mellitus
NDM

Presentation

KATP channels are also present in the brain. Median age at presentation in a recent study was 9.6 weeks (IQR 6.1–18.3 weeks)5 and most patients present before 6 months of age, though presentation after 6 months of age has been reported. [dovepress.com]

Neonatal diabetes may not always present in the immediate neonatal period. [ncbi.nlm.nih.gov]

A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia... [read.qxmd.com]

These characteristics differentiate neonatal diabetes from type 1 diabetes, which presents later and in which autoantibodies are present. [medscape.com]

The most severe clinical form of PNDM presents as Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome. Diagnosis is confirmed by genetic mutation testing. Oral sulfonylurea therapy improves neurological outcome. [unboundmedicine.com]

Workup

Diagnostic Workup The first approach to hyperglycemia is evaluating if a specific cause could be the contributing factor. This should include assessing the amount of glucose administration. [dovepress.com]

Serum

  • Glucose Increased

    Panel B shows the median incremental increase in insulin and glucose concentration from baseline in response to intravenous glucose, oral glucose, and a mixed meal in seven patients whose treatment was successfully switched from insulin to sulfonylurea [nejm.org]

Treatment

In the transient form, treatment may be stopped at any time from the first weeks of life to 5 years of age (4). In the permanent forms, life-long treatment is necessary. [frontiersin.org]

Sulfonylurea treatment is the treatment of choice for patients with KATP channel genetic mutation (KCNJ11 and ABCC8) and it has been shown to improve neurocognitive features. [dovepress.com]

Insulin treatment in children and adolescents with diabetes: Insulin treatment. [cited 2017 Oct 16];Pediatr Diabetes. 2014 15:115–34. Internet. Available from: http://doi.wiley.com/10.1111/pedi.12184. [PubMed] [Google Scholar] 46. [ncbi.nlm.nih.gov]

Treatment[edit] Remarkably, this type of diabetes often responds well to sulfonylureas and insulin may not be necessary. [en.wikipedia.org]

The other 2 patients have no reaction to medical treatment and continuing with insulin treatment. [omicsonline.org]

Prognosis

With proper management, the prognosis for overall health and normal brain development is normally good. It is highly advised people living with NDM seek prognosis from their health care provider. [en.wikipedia.org]

[…] eld of pediatric diabetes, in an attempt to determine the most accurate diagnosis and its implications on appropriate treatment and prognosis. [dialnet.unirioja.es]

Furthermore, glyburide may improve the neurologic prognosis, by decreasing not only the number of hypoglycemia events, but also by restoring K ATP channel function in neuronal cells. [care.diabetesjournals.org]

The current investigation focused on the most common treatable epilepsies and other conditions in which early diagnosis and intervention could lead to better prognosis in children. [rcm.mums.ac.ir]

However, obtaining a genetic diagnosis remains imperative to inform long-term management and prognosis. [frontiersin.org]

Etiology

Etiology DEND syndrome is caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. [orpha.net]

As the molecular genetic etiology provides key information on the clinical course and optimal treatment, molecular genetic testing should be performed as soon as an infant <6 months of age is diagnosed as having diabetes mellitus, without waiting for [medscape.org]

Although neonatal diabetes is a common outcome, the severity of symptoms and other associated features are dependent on the underlying genetic etiology. [dovepress.com]

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center. Kim JH, Lee Y, Choi Y, Kim GH, Yoo HW, Choi JH. Kim JH, et al. [pubmed.ncbi.nlm.nih.gov]

Therefore, neurologists should determine the etiology of epilepsy, especially in pediatric patients, and the treatment should not be restricted to symptomatic therapy. [rcm.mums.ac.ir]

Epidemiology

Summary Epidemiology Fewer than 40 cases have been reported to date. Clinical description DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. [orpha.net]

Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. Arch Dis Child Fetal Neonatal Ed. 1999;80:F209–12. [link.springer.com]

[…] collaborate analysis of diabetic criteria in AsiaDECODA研究 Diabetes epidemiology collaborate analysis of diabetic criteria in EuropeDECODE研究 Diabetes epidemiology research internationalDERI研究 Diabetes mellitus due to other specific mechanisms or disease [jds.or.jp]

Cited by Epidemiology and phenotypes of diabetes in children and adolescents in non-European-origin populations in or from Western Pacific region. James S, Maniam J, Cheung PT, Urakami T, von Oettingen J, Likitmaskul S, Ogle G. James S, et al. [pubmed.ncbi.nlm.nih.gov]

This is the case for the KATP genes KCNJ11 and ABCC8, and paternally inherited 6q24 amplifications, any of which have a 50% chance of being transmitted to each offspring of an affected individual.[8] Epidemiology[edit] About 1 in 90,000 to 160,000 children [en.wikipedia.org]

Pathophysiology

Genetics and pathophysiology of neonatal diabetes mellitus. J Diabetes Investig 2011;2:158–69. 2. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, et al. [e-apem.org]

"Genetics and pathophysiology of neonatal diabetes mellitus". Journal of Diabetes Investigation. 2 (3): 158–169. doi:10.1111/j.2040-1124.2011.00106.x. ISSN 2040-1116. PMC 4014912. [en.wikipedia.org]

Conclusion Neonatal diabetes is a model of rare human genetic disease, important in the understanding of the development and function of the pancreatic β cell, and in helping to resolve the pathophysiology of more frequent adult diabetes, such as type [frontiersin.org]

J Mol Biol 234 : 779 – 815 ↵ Seino S, Miki T ( 2003 ) Physiological and pathophysiological roles of ATP‐sensitive K + channels. [embor.embopress.org]

Prevention

Can Neonatal Diabetes Be Prevented or Cured? Neonatal diabetes is caused by a genetic mutation. There’s currently no way to prevent or cure it, but it can be managed. [nationwidechildrens.org]

Mutations in KCNJ11 that cause iDEND act by reducing the ability of cellular ATP to block to the KATP channel.[1,2,7] As a consequence, the channel remains open when blood glucose levels rise, preventing insulin secretion.[2] As the mutation (His46Leu [medscape.com]

Sulfonylureas improve K ATP channel function in the pancreatic β-cell and also in neuronal and muscle cells, and could potentially play a role in the treatment and/or prevention of such neurologic manifestations. [care.diabetesjournals.org]

Known genetic variants cause neonatal diabetes by five major mechanisms: Preventing the development of the pancreas or β cells, promoting β-cell death by autoimmunity or endoplasmic reticulum stress, preventing β cells from recognizing glucose or secreting [en.wikipedia.org]

A ketogenic diet could improve myelination and prevent brain damage in these patients (23). [rcm.mums.ac.ir]

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