Case of neonatal diabetes mellitus due to KCNJ11 mutation: Therapeutic implications of a genetic diagnosis

Abstract

Abstract BACKGROUND: Neonatal diabetes mellitus (NDM) is a rare condition occurring in approximately 1 in 90,000 live births. CASE REPORT: We describe a 2.5-month-old infant with neonatal diabetes who presented with diabetic ketoacidosis due to a mutation affecting the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel in pancreatic beta cells. CONCLUSION: Availing a genetic diagnosis has crucial therapeutic implications in the initiation of oral sulfonylureas in KCNJ11 and ABCC8 mutations as against the continued use of subcutaneous insulin in some other causes of neonatal diabetes.