Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia

N Engl J Med. 2014 Mar 20;370(12):1131-7. doi: 10.1056/NEJMoa1310967.

Abstract

Hyperinsulinemic hypoglycemia is the most common cause of severe, persistent neonatal hypoglycemia. The treatment of hyperinsulinemic hypoglycemia that is unresponsive to diazoxide is subtotal pancreatectomy. We examined the effectiveness of the mammalian target of rapamycin (mTOR) inhibitor sirolimus in four infants with severe hyperinsulinemic hypoglycemia that had been unresponsive to maximal doses of diazoxide (20 mg per kilogram of body weight per day) and octreotide (35 μg per kilogram per day). All the patients had a clear glycemic response to sirolimus, although one patient required a small dose of octreotide to maintain normoglycemia. There were no major adverse events during 1 year of follow-up.

Publication types

  • Case Reports

MeSH terms

  • Blood Glucose / analysis
  • Congenital Hyperinsulinism / blood
  • Congenital Hyperinsulinism / drug therapy*
  • Congenital Hyperinsulinism / genetics
  • Female
  • Humans
  • Infant
  • Male
  • Mutation
  • Sirolimus / adverse effects
  • Sirolimus / therapeutic use*
  • TOR Serine-Threonine Kinases / antagonists & inhibitors*

Substances

  • Blood Glucose
  • MTOR protein, human
  • TOR Serine-Threonine Kinases
  • Sirolimus