KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life
2012
Background/Objective
Mutations in the KATP channel genes are the commonest cause of permanent neonatal diabetes. Most patients obtain optimal glycemic control on sulfonylurea treatment. Genetic testing is currently recommended for all infants diagnosed before 6 months of age. We aimed to explore the prevalence of KATP channel diabetes in infants presenting between 6 and 12 months.
Methods
The KCNJ11 and ABCC8 genes were sequenced in 115 infants with permanent diabetes diagnosed between 6 and 12 months and in 405 patients presenting before 6 months.
Results
Mutations in either gene were identified in 197 patients diagnosed before 6 months (48.6%), three infants diagnosed between 6 and 9 months (4.2%) and none of those diagnosed after 9 months. Two patients diagnosed after 6 months were successfully transferred from insulin to sulfonylureas.
Conclusion
KATP channel mutations are an uncommon cause of diabetes in infants presenting after 6 months. However, given the potential clinical benefit from identifying a KATP channel mutation, we recommend that KATP mutation testing should be routinely extended to infants diagnosed up to 9 months.
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