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K ATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life
Author(s) -
Rubio-Cabezas Oscar,
Flanagan Sarah E,
Damhuis Annet,
Hattersley Andrew T,
Ellard Sian
Publication year - 2012
Publication title -
pediatric diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.678
H-Index - 75
eISSN - 1399-5448
pISSN - 1399-543X
DOI - 10.1111/j.1399-5448.2011.00824.x
Subject(s) - medicine , diabetes mellitus , sulfonylurea , pediatrics , glycemic , genetic testing , gene mutation , mutation , endocrinology , gene , genetics , biology
Background/Objective Mutations in the K ATP 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 K ATP 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 K ATP channel mutations are an uncommon cause of diabetes in infants presenting after 6 months. However, given the potential clinical benefit from identifying a K ATP channel mutation, we recommend that K ATP mutation testing should be routinely extended to infants diagnosed up to 9 months.