Aetiopathology and genetic basis of neonatal diabetes.
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.
Shield
J P
JP
Institute of Child Health, St Michael's Hill, Bristol.
Gardner
R J
RJ
Wadsworth
E J
EJ
Whiteford
M L
ML
James
R S
RS
Robinson
D O
DO
Baum
J D
JD
Temple
I K
IK
D000782:Aneuploidy; D002896:Chromosomes, Human, Pair 6; D003922:Diabetes Mellitus, Type 1 / Q000209:etiology* / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D018392:Genomic Imprinting; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn