Background
Mutations in the KCNJ11 gene encoding the adenosine triphosphate (ATP)-sensitive potassium channel (KATP) subunit Kir6.2 are the most frequent cause of diabetes in infancy. Sulfonylurea (SU) treatment restores insulin secretion
in patients with KCNJ11 mutations.
Materials and methods
We report a 9-year-old boy who presented at the age of three months with diabetic ketoacidosis. Results Sequencing of the KCNJ11 gene revealed an R201H mutation. Therefore, he was transferred from insulin to oral SU therapy. He required a high-threshold
dose before insulin could be discontinued. After transition, a subsequent dose reduction was necessary to avoid hypoglycemia.
Improved sustained metabolic control without complications was achieved on a low SU maintenance dose twice daily over 36 months.
Conclusion
SU therapy is safe for patients with diabetes due to KCNJ11 mutations. The mechanism of a threshold dose and the twice-daily requirement needs further attention.
Keywords Children - Diabetes mellitus - Drug therapy - Kir6.2 channel - Sulfonylurea receptor