Literature DB >> 20368737

Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age.

Angus G Jones1, Andrew T Hattersley.   

Abstract

BACKGROUND: A 17-year-old female was referred for the reassessment of her type 1 diabetes mellitus, with which she had been diagnosed at the age of 15 weeks owing to symptoms of ketoacidosis. The patient had mild learning difficulties, which resulted in her requiring additional support at school. There was no family history of diabetes. INVESTIGATIONS: Measurements of plasma C-peptide and glutamate decarboxylase autoantibodies. Molecular genetic testing was performed. DIAGNOSIS: Intermediate developmental delay, epilepsy and neonatal diabetes mellitus (DEND) syndrome as a result of a 59V>M Kir6.2 mutation. MANAGEMENT: Treatment with high-dose oral glibenclamide replaced insulin treatment. Good glycemic control was achieved with levels of HbA(1c) consistently below 6.5% and no hypoglycemia.

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Year:  2010        PMID： 20368737     DOI： 10.1038/nrendo.2010.42

Source DB:  PubMed          Journal:  Nat Rev Endocrinol        ISSN： 1759-5029            Impact factor:   43.330


  18 in total

1.  Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.

Authors:  A S Slingerland; R Nuboer; M Hadders-Algra; A T Hattersley; G J Bruining
Journal:  Diabetologia       Date:  2006-09-19       Impact factor: 10.122

2.  Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Authors:  Ewan R Pearson; Isabelle Flechtner; Pål R Njølstad; Maciej T Malecki; Sarah E Flanagan; Brian Larkin; Frances M Ashcroft; Iwar Klimes; Ethel Codner; Violeta Iotova; Annabelle S Slingerland; Julian Shield; Jean-Jacques Robert; Jens J Holst; Penny M Clark; Sian Ellard; Oddmund Søvik; Michel Polak; Andrew T Hattersley
Journal:  N Engl J Med       Date:  2006-08-03       Impact factor: 91.245

3.  Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.

Authors:  I K Temple; R J Gardner; D J Mackay; J C Barber; D O Robinson; J P Shield
Journal:  Diabetes       Date:  2000-08       Impact factor: 9.461

4.  Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

Authors:  S E Flanagan; E L Edghill; A L Gloyn; S Ellard; A T Hattersley
Journal:  Diabetologia       Date:  2006-04-12       Impact factor: 10.122

Review 5.  Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.

Authors:  Andrew T Hattersley; Frances M Ashcroft
Journal:  Diabetes       Date:  2005-09       Impact factor: 9.461

6.  Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.

Authors:  Wojciech Mlynarski; Andrei I Tarasov; Agnieszka Gach; Christophe A Girard; Iwona Pietrzak; Lejla Zubcevic; Jacek Kusmierek; Tomasz Klupa; Maciej T Malecki; Frances M Ashcroft
Journal:  Nat Clin Pract Neurol       Date:  2007-11

7.  Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Authors:  Anna L Gloyn; Ewan R Pearson; Jennifer F Antcliff; Peter Proks; G Jan Bruining; Annabelle S Slingerland; Neville Howard; Shubha Srinivasan; José M C L Silva; Janne Molnes; Emma L Edghill; Timothy M Frayling; I Karen Temple; Deborah Mackay; Julian P H Shield; Zdenek Sumnik; Adrian van Rhijn; Jerry K H Wales; Penelope Clark; Shaun Gorman; Javier Aisenberg; Sian Ellard; Pål R Njølstad; Frances M Ashcroft; Andrew T Hattersley
Journal:  N Engl J Med       Date:  2004-04-29       Impact factor: 91.245

8.  Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.

Authors:  Meena Rafiq; Sarah E Flanagan; Ann-Marie Patch; Beverley M Shields; Sian Ellard; Andrew T Hattersley
Journal:  Diabetes Care       Date:  2007-11-19       Impact factor: 19.112

9.  Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.

Authors:  A S Slingerland; W Hurkx; K Noordam; S E Flanagan; J W Jukema; L C Meiners; G J Bruining; A T Hattersley; M Hadders-Algra
Journal:  Diabet Med       Date:  2008-03       Impact factor: 4.359

10.  Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Authors:  Andrey P Babenko; Michel Polak; Hélène Cavé; Kanetee Busiah; Paul Czernichow; Raphael Scharfmann; Joseph Bryan; Lydia Aguilar-Bryan; Martine Vaxillaire; Philippe Froguel
Journal:  N Engl J Med       Date:  2006-08-03       Impact factor: 91.245
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  3 in total

1.  Molecular mechanism of sulphonylurea block of K(ATP) channels carrying mutations that impair ATP inhibition and cause neonatal diabetes.

Authors:  Peter Proks; Heidi de Wet; Frances M Ashcroft
Journal:  Diabetes       Date:  2013-07-08       Impact factor: 9.461

2.  DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.

Authors:  Ja Hyang Cho; Eungu Kang; Beom Hee Lee; Gu Hwan Kim; Jin Ho Choi; Han Wook Yoo
Journal:  J Korean Med Sci       Date:  2017-06       Impact factor: 2.153

3.  Candidate SNP Markers of Gender-Biased Autoimmune Complications of Monogenic Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters.

Authors:  Mikhail P Ponomarenko; Olga Arkova; Dmitry Rasskazov; Petr Ponomarenko; Ludmila Savinkova; Nikolay Kolchanov
Journal:  Front Immunol       Date:  2016-04-04       Impact factor: 7.561
  3 in total

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