Neonatal Diabetes (Kir6.2)

Neonatal diabetes is a new type of insulin dependent diabetes in children diagnosed under 6 months that may alter treatment.

Professors Andrew Hattersley and Sian Ellard in Exeter have identified that activating mutations in the KCNJ11 and ABCC8 genes, encoding the Kir6.2 and SUR1 subunits of the pancreatic K-ATP channel , cause diabetes which is typically diagnosed in the first six months of life (Gloyn et al. N Eng J Med 2004:350; 1838-1849; Proks et al, Hum Mol Genet 2006:15; 1793-1800). These patients often have de-novo mutations and so do not have diabetic relatives.

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Neonatal Diabetes