Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report

Diabetes Res Clin Pract. 2013 Apr;100(1):e1-2. doi: 10.1016/j.diabres.2013.01.016. Epub 2013 Feb 21.

Abstract

Mutations in KCNJ11 are a common cause of permanent neonatal diabetes mellitus. Previously, all patients carrying an R201H mutation in the KCNJ11 gene showed successful switches from insulin to sulfonylurea. Here, we report an unsuccessful switch in an 18-year-old patient carrying the common R201H mutation in the KCNJ11 gene.

Publication types

  • Case Reports

MeSH terms

  • Administration, Oral
  • Adolescent
  • Arginine
  • Blood Glucose / metabolism
  • Diabetes Mellitus, Type 1 / blood
  • Diabetes Mellitus, Type 1 / drug therapy*
  • Diabetes Mellitus, Type 1 / genetics
  • Glyburide / therapeutic use*
  • Glycated Hemoglobin A / metabolism
  • Histidine
  • Humans
  • Hypoglycemic Agents / therapeutic use*
  • Insulin / blood
  • Insulin / therapeutic use*
  • Male
  • Mutation, Missense / genetics*
  • Potassium Channels, Inwardly Rectifying / blood
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Sulfonylurea Compounds / therapeutic use*
  • Treatment Failure

Substances

  • Blood Glucose
  • Glycated Hemoglobin A
  • Hypoglycemic Agents
  • Insulin
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Sulfonylurea Compounds
  • hemoglobin A1c protein, human
  • Histidine
  • Arginine
  • Glyburide