Neonataler Diabetes - molekulargenetische Diagnostik wegweisend

neonataler Diabetes mellitus - Kir6.2 - Uniparentale paternale
Isodisomie

neonatal diabetes mellitus - Kir6.2 Gene - paternal uniparental
isodisomy

Literatur

• 1 Codner E, Flanagan S, Ellard S. et al . High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 Mutation.  Diabetes Care. 2005;  28 758-759
• 2 Flanagan S, Edghill E, Gloyn A. et al . Mutations in KCNJ 11, which encodes Kir 6.2, are common cause of diabetes diagnosed in the first 6 months of life, with the phenotype defined by the genotype.  Diabetologia. 2006;  49 1190-1197
• 3 Gardner R, Mackay D, Mungall A. et al . An imprinted locus associated with transient neonatal diabetes mellitus.  Hum Mol Genet. 2000;  9 589-596
• 4 Gloyn A, Pearson E, Antcliff J. et al . Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.  N Engl J Med. 2004;  350 1838-1849
• 5 Gloyn A, Reimann F, Girard C. et al . Relapsing diabetes can result from moderately activating mutations in KCNJ11.  Hum Mol Genet. 2005;  14 925-934
• 6 Hattersley A, Ashcroft F. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.  Diabetes. 2005;  54 2503-2513
• 7 Iafusco D, Stazi M A, Cotichini R. et al . Permanent diabetes mellitus in the first year of life.  Diabetologia. 2002;  45 798-804
• 8 Inagaki N, Gonoi T J. Reconstitution of IK-ATP: an inward rectifier subunit plus the sulphonylurea receptor.  Science. 1995;  270 1166-1170
• 9 Mackay D, Coupe A, Shield J, Storr J, Temple I, Robinson D. Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.  Hum Genet. 2002;  110 139-144
• 10 Massa O, Iafusco D, D’Amato E. et al . KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.  Hum Mutat. 2005;  25 22-27
• 11 Polak M, Shield J. Neonatal and very-early-onset diabetes mellitus.  Semin Neonatol. 2004;  9 59-65
• 12 Sagen J, Raeder H, Hathout E. et al . Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.  Diabetes. 2004;  53 2713-2718
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• 14 Temple I, Gardner R, Mackay D. et al . Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.  Diabetes. 2000;  49 1359-1366
• 15 Von Mühlendahl K, Herkenhoff H. Long term course of neonatal diabetes.  N Engl J Med. 1995;  333 704-708
• 16 Zung A, Glaser B, Nimri R. et al . Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.  J Clin Endocrinol Metab. 2004;  89 5504-5507