A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

Diabetes Res Clin Pract. 2017 Jul:129:59-61. doi: 10.1016/j.diabres.2017.04.021. Epub 2017 May 3.

Abstract

Neonatal diabetes mellitus is a rare monogenic disease with incidence of 1/90,000 newborns. A case of two months aged male infant with life threatening diabetic ketoacidosis is presented with novel ABCC8 gene mutation (p.F577L), successful transition from insulin to sulfonylurea and follow-up of three years.

Keywords: ABCC8 mutation; Neonatal diabetes; Sulfonylurea.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diabetes Mellitus, Type 1 / diagnosis*
  • Diabetes Mellitus, Type 1 / drug therapy
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetic Ketoacidosis / diagnosis
  • Diabetic Ketoacidosis / drug therapy
  • Diabetic Ketoacidosis / genetics
  • Drug Substitution
  • Follow-Up Studies
  • Humans
  • Hypoglycemic Agents / administration & dosage*
  • Infant
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis
  • Infant, Newborn, Diseases / drug therapy
  • Infant, Newborn, Diseases / genetics
  • Insulin / administration & dosage
  • Male
  • Mutation
  • Mutation, Missense
  • Potassium Channels, Inwardly Rectifying / genetics
  • Sulfonylurea Compounds / administration & dosage*
  • Sulfonylurea Receptors / genetics*

Substances

  • ABCC8 protein, human
  • Hypoglycemic Agents
  • Insulin
  • Potassium Channels, Inwardly Rectifying
  • Sulfonylurea Compounds
  • Sulfonylurea Receptors