Non-insulin dependent diabetes in children and adolescents
Njølstad, P.R.; Søvik, O.; Bell, G.I.; Cockburn, B.N.; Følling, I.; Sagen, J.
Tidsskrift for den Norske Laegeforening Tidsskrift for Praktisk Medicin Ny Raekke 118(7): 1054-1057
1998
ISSN/ISBN: 0029-2001 PMID: 9531829 Document Number: 486709
Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogenous disorder characterized by autosomal dominant inheritance with onset usually before 25 years of age, and a primary defect in glucose-stimulated insulin secretion. Genetic analyses have shown that mutations in at least five different genes can cause MODY. These are the genes encoding the glycolytic enzyme glucokinase, three liver-enriched transcription factors, hepatocyte nuclear factor (HNF)-1 alpha, HNF-1 beta and HNF-4 alpha, and the gene encoding the transcription factor, insulin promoter factor-1 (IPF-1). Patients with MODY3 run a considerable risk of developing diabetic eye disease. MODY2, related to glucokinase deficiency, is a relatively benign disorder which does not usually require insulin. Experiences with the three other MODY forms have so far been restricted to very few families. We present the first Norwegian family with MODY2. Furthermore, a previously published Norwegian family is shown to be MODY3. Subjects who fulfil the criteria of MODY can, by genetic testing, gain information important for prognosis and perhaps also for therapy.