Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation

Diabetes Res Clin Pract. 2011 Jan;91(1):e1-3. doi: 10.1016/j.diabres.2010.09.027. Epub 2010 Nov 5.

Abstract

Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. We describe a female neonate who is a heterozygous for a new missense mutation, V252L, in the KCNJ11 gene and who has been successfully transitioned from insulin to sulfonylurea therapy.

Publication types

  • Case Reports

MeSH terms

  • Diabetes Mellitus / drug therapy*
  • Diabetes Mellitus / genetics*
  • Female
  • Glyburide / adverse effects
  • Glyburide / therapeutic use
  • Heterozygote
  • Humans
  • Hypoglycemic Agents / adverse effects
  • Hypoglycemic Agents / therapeutic use*
  • Infant, Newborn
  • Mutation, Missense*
  • Potassium Channels, Inwardly Rectifying / chemistry
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Sulfonylurea Compounds / adverse effects
  • Sulfonylurea Compounds / therapeutic use*
  • Treatment Outcome

Substances

  • Hypoglycemic Agents
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Sulfonylurea Compounds
  • Glyburide