Channelpedia

PubMed 20368737


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Kir6.2



Title: Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age.

Authors: Angus G Jones, Andrew T Hattersley

Journal, date & volume: Nat Rev Endocrinol, 2010 Jun , 6, 347-51

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20368737


Abstract
A 17-year-old female was referred for the reassessment of her type 1 diabetes mellitus, with which she had been diagnosed at the age of 15 weeks owing to symptoms of ketoacidosis. The patient had mild learning difficulties, which resulted in her requiring additional support at school. There was no family history of diabetes.Measurements of plasma C-peptide and glutamate decarboxylase autoantibodies. Molecular genetic testing was performed.Intermediate developmental delay, epilepsy and neonatal diabetes mellitus (DEND) syndrome as a result of a 59V>M Kir6.2 mutation.Treatment with high-dose oral glibenclamide replaced insulin treatment. Good glycemic control was achieved with levels of HbA(1c) consistently below 6.5% and no hypoglycemia.