Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome)
2007
Abstract
Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the ATP-sensitive potassium channel are the most common cause of permanent neonatal diabetes mellitus (PNDM). The majority of these patients respond to sulphonylurea treatment with insulin secretion.
Nevertheless, this responsiveness is not a universal property: the clinical severity of PNDM caused by the KCNJ11 mutation varies substantially depending on the genotype, and genotype also influences the ability to secrete insulin when stimulated by sulphonylurea. The most severe KCNJ11 mutations cause developmental delay and epilepsy combined with permanent neonatal diabetes-the DEND syndrome.