RT Journal Article
SR Electronic
T1 Aetiopathology and genetic basis of neonatal diabetes
JF Archives of Disease in Childhood - Fetal and Neonatal Edition
JO Arch Dis Child Fetal Neonatal Ed
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP F39
OP F42
DO 10.1136/fn.76.1.F39
VO 76
IS 1
A1 J P H Shield
A1 R J Gardner
A1 E J K Wadsworth
A1 M L Whiteford
A1 R S James
A1 D O Robinson
A1 J D Baum
A1 I K Temple
YR 1997
UL http://fn.bmj.com/content/76/1/F39.abstract
AB A British Paediatric Association Surveillance Unit* study of neonatal diabetes determined a national incidence of 1 in 400 000 live births. Additional cases of transient neonatal diabetes were collected retrospectively. Most cases were of low birthweight at term: none had evidence of an autoimmune aetiopathogenesis. The median requirement for exogenous insulin treatment was three months.  A significant number of cases developed type 2 diabetes in later life. Three of the 11 cases were found to have paternal uniparental isodisomy of chromosome 6. A further patient carried an unbalanced duplication of 6q 22-23, inherited from the father, which localised a potentially imprinted gene for diabetes to this region.  The fact that low birthweight predisposes to type 2 diabetes in later life is well established, but a genetic defect that may relate both to intrauterine growth failure and the development of type 2 diabetes in later life has now been identified.