Authors: E Feigerlová Š Pruhová L Dittertová J Lebl D Pinterová K Kološtová M Černá O Pedersen T Hansen
Publish Date: 2006/04/07
Volume: 165, Issue: 7, Pages: 446-452
Abstract
We analysed the aetiological diagnosis in 82 nonobese paediatric subjects 38 males aged 02185 years median 131 who were referred for elucidation of a randomly found blood glucose level above 55 mmol/l In addition to fasting glycaemia and circulating levels of insulin and Cpeptide the subjects were tested by an oral glucose tolerance test and an intravenous glucose tolerance test and screened for mutations in the genes encoding glucokinase GCK HNF1α TCF1 Kir62 KCNJ11 if aged 2 years and HNF4α HNF4A those with a positive family history of diabetesWe identified 35 carriers of GCK mutations causing MODY2 two carriers of TCF1 mutations causing MODY3 one carrier of a HNF4A mutation causing MODY1 and one carrier of a KCNJ11 mutation causing permanent neonatal diabetes mellitus Of the remaining patients 11 progressed to type 1 diabetes mellitus T1DM and 9 had impaired glucose tolerance or diabetes mellitus of unknown origin In 23 subjects an impairment of blood glucose levels was not confirmed We conclude that 39 of 82 paediatric patients 48 with randomly found fasting hyperglycaemia suffered from single gene defect conditions MODY2 being the most prevalent An additional 11 patients 13 progressed to overt T1DM The aetiological diagnosis in asymptomatic hyperglycaemic children and adolescents is a clue to introducing an early and effective therapy or in MODY2 to preventing any future extensive reinvestigations
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