Aetiopathology and genetic basis of neonatal diabetes
JPH Shield, RJ Gardner, EJK Wadsworth… - Archives of Disease in …, 1997 - fn.bmj.com
JPH Shield, RJ Gardner, EJK Wadsworth, ML Whiteford, RS James, DO Robinson, JD Baum…
Archives of Disease in Childhood-Fetal and Neonatal Edition, 1997•fn.bmj.comA 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 …
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 …
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.
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