Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation

Pediatr Diabetes. 2010 Jun;11(4):286-8. doi: 10.1111/j.1399-5448.2009.00557.x. Epub 2009 Jul 29.

Abstract

Activating mutations in the K(ATP)-channel cause neonatal diabetes mellitus (NDM), and patients have been safely transitioned from insulin to sulfonylureas. We report a male infant with permanent NDM (PNDM), born to a PNDM mother. Blood glucose began to rise on day of life (DOL) 2, and sulfonylurea (glyburide) therapy was initiated on DOL 5. Glucose was subsequently well controlled and normal at 3 months. A K(ATP) mutation (R201H; KCNJ11) was detected in the infant, the mother, and 6-yr-old sister with PNDM; both were also subsequently transitioned off insulin onto glyburide. To our knowledge, this is the youngest NDM patient to receive oral glyburide and, importantly, the only one deliberately initiated on sulfonylureas. Strikingly, the current dose (0.017 mg/kg/d) is below the reported therapeutic range and approximately 75-fold lower than doses required by the affected sister and mother. Pancreatic insulin disappears in an animal model of K(ATP)-induced NDM, unless glycemia is well controlled, thus, a dramatically lower glyburide requirement in the infant may reflect preserved insulin content because of early sulfonylurea intervention. Safe and effective initiation of glyburide in an insulin-naïve neonatal patient with K(ATP)-dependent PNDM argues for early detection and sulfonylurea intervention.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Glucose / drug effects
  • Blood Glucose / genetics
  • Child
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / drug therapy*
  • Diabetes Mellitus / genetics*
  • Early Diagnosis
  • Female
  • Glyburide / therapeutic use*
  • Humans
  • Hypoglycemic Agents / therapeutic use*
  • Infant, Newborn
  • Insulin / therapeutic use
  • Male
  • Mutation
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Treatment Outcome
  • Young Adult

Substances

  • Blood Glucose
  • Hypoglycemic Agents
  • Insulin
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Glyburide