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]

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

These patients often present with PNDM with additional features such as liver disease and epiphyseal dysplasia developing later. [diapedia.org]

• Noncompliance

  This is attributed to the characteristic of the specific mutation, to B-cell glucotoxicity from prolonged poor control before transfer, or to noncompliance. 30 In fact, patients should be given a trial of sulfonylurea for a period of at least 3 months [dovepress.com]

• Tooth Discoloration

  Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes Care 2009;32:1428–30. 19. Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. [e-apem.org]

  Despite these relatively high doses, the only side-effects reported include transitory diarrhoea or tooth discoloration in a few patients. [diapedia.org]

  Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes Care. 2009;32(8):1428–1430. 54. Iafusco D, Bizzarri C, Cadario F, et al. [dovepress.com]

• Polyuria

  Testing is appropriate for: Infants with persistent hyperglycemia ± history of intrauterine growth retardation, osmotic polyuria, severe hydration and failure to thrive. [seattlechildrenslab.testcatalog.org]

  The diabetes is usually diagnosed in the first 3 months of life due to continuing poor weight gain, polyuria, or diabetic ketoacidosis. Rare cases have been recognized as late as 6 months of age. [en.wikipedia.org]

  At the age of 5 months she developed fever, polyuria, irritability and laboratory work-up revealed glucosuria and a blood glucose level of 900 mg/dL; however, ketoacidosis was not documented. [scielo.br]

  Initial clinical manifestations include hyperglycemia, glycosuria, intrauterine growth retardation, osmotic polyuria, severe dehydration, and failure to gain weight. [blueprintgenetics.com]

• Spike-and-Slow-Waves

  A subsequent electroencephalogram showed slow background activity with multifocal spikes and slow wave complexes and then she was initiated on valproic acid (40 mg/kg/d). [scielo.br]

• Multifocal Spikes

  A subsequent electroencephalogram showed slow background activity with multifocal spikes and slow wave complexes and then she was initiated on valproic acid (40 mg/kg/d). [scielo.br]

• Neurophysiologic Abnormalities

  The prompt care is clinically important as both hypoglycemia and hyperglycemia are associated with acute neurophysiological abnormalities and later neurodevelopmental impairment. [dovepress.com]

• 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]

• Amino Acids Increased

  In this regard, Trapp and cols. (31) demonstrated experimentally that mutations at residue 166 that replace cysteine – an hydrophobic amino acid, by larger and less hydrophobic amino acids increased the channel open probability, suggesting that the altered [scielo.br]

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

Glucose and C-peptide responses stimulated by oral glucose tolerance test (OGTT), hemoglobin A1c levels, the 8-point self-measured blood glucose (SMBG) profile and the frequency of hypoglycemia episodes were analyzed, before and during treatment with [discovery.dundee.ac.uk]

The aim of this study was to determine the clinical effects, functional cause, and sensitivity to sulfonylurea treatment of a novel KCNJ11 mutation producing DEND syndrome. [ncbi.nlm.nih.gov]

Parents and patients should understand that the risk of hypo- and hyperglycemia exists on sulfonylurea treatment, and education in their prevention and treatment should be given. [dovepress.com]

Sulfonylurea treatment in permanent neonatal diabetes due to G53D mutation in the KCNJ11 gene: improvement in glycemic control and neurological function. Diabetes Care. 2007;30:e108. [ Links ] 23. [scielo.br]

[…] 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]

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]

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

Our aim was to consider a possible monogenic etiology in a 12-yr-old boy with early onset diabetes and mild neurological features. [readbyqxmd.com]

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. PubMedCentral PubMed CrossRef Google Scholar 5. [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]

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]

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

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]

[…] programDPP試験 Diabetes prevention trial-1DPT-1試験 Diabetes prevention trial-Type 1DPT-1試験 Diabetic nephropathy remission and regression team trial in JapanDNETT-Japan Diabetic retinopathy candesartan trialsDIRECT試験 Donohue's syndromeドナヒュー症候群 Duloxetine [jds.or.jp]

Functional studies have demonstrated that these ABCC8 and KCNJ11 mutations cause diabetes by reducing the sensitivity of the K-ATP channel to ATP thereby preventing insulin secretion. [diapedia.org]

Parents and patients should understand that the risk of hypo- and hyperglycemia exists on sulfonylurea treatment, and education in their prevention and treatment should be given. [dovepress.com]

This hyperpolarization keeps voltage-gated calcium channels closed, preventing calcium influx and insulin release. Other stimuli, such as GLP1, are ineffective because the membrane is hyperpolarized and cytosolic calcium levels remain low. [nejm.org]