Prädisposition und Phänotypen des MODY – Implikationen für Diagnostik und Therapie

Schlüsselwörter

MODY - Glukokinase - HNF1A - monogenetischer Diabetes - Transkriptionsfaktor

Keywords

MODY - glucokinase - HNF1A - monogenetic diabetes - transcription factor

• Literatur

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• 3 Fendler W, Borowiec M, Baranowska-Jazwiecka A et al. Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign. Diabetologia 2012; 55: 2631-2635
• 4 Hummel M, Vasseur F, Mathieu C et al. Two caucasian families with the hepatocyte nuclear factor-1alpha mutation Y218C. Exp Clin Endocrinol Diabetes 2007; 115: 62-64
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• 6 Lango Allen H, Johansson S, Ellard S et al. Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes 2010; 59, 11: 266-271
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• 8 Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenetic β-cell diabetes. Nature Clinical Practice 2008; 4: 200-213
• 9 Neu A, Feldhahn L, Ehehalt S et al. Type 2 diabetes mellitus in children and adolescents is still a rare disease in Germany: a population-based assessment of the prevalence of type 2 diabetes and MODY in patients aged 0-20 years. Pediatr Diabetes 2009; 10: 468-473
• 10 Pearson ER, Velho G, Clark P et al. Beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. Diabetes 2001; 50 (Suppl. 01) 101-107
• 11 Shields BM, Hicks S, Shepherd MH et al. Maturity-onset diabetes of the young (MODY): how many cases are we missing?. Diabetologia 2010; 53: 2504-2508
• 12 Stride A, Shields B, Gill-Carey O et al. Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia 2014; 57: 54-56
• 13 Stride A, Vaxillaire M, Tuomi T et al. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia 2002; 45: 427-435
• 14 The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care 1997; 20: 1183-1197