Aetiopathology and genetic basis of neonatal diabetes
a *The British Paediatric Association Surveilliance
Unit is now the Surveillance Unit of the Royal College of Paediatrics
and Child HealthInstitute of Child Health, St Michael's Hill,
Bristol, BS2 8BJ, b Wessex Regional Genetics Laboratory, Salisbury District
Hospital, c Duncan Guthrie Institute of Medical Genetics, Yorkhill,
Glasgow, d Wessex Clinical
Genetics Service, The Princess Anne Hospital, Southampton
Correspondence to: Dr J P H Shield.
Accepted 11 October 1996
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.
© 1997 by Archives of Disease in Childhood
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