Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome

Singapore Med J. 2012 Jul;53(7):e142-4.

Abstract

Neonatal diabetes mellitus (DM) is defined as insulin-requiring DM in the first six months of life. Unlike type 1 DM, it is a monogenic disorder resulting from a de novo mutation in the genes involved in the development of the pancreas, β-cell mass or secretory function. The majority of neonatal DM cases are caused by a heterozygous activating mutation in the KCNJ11 or ABCC8 genes that encode the Kir6.2 and SUR1 protein subunits, respectively, in the KATP channel. Sulphonylurea, a KATP channel inhibitor, can restore insulin secretion, hence offering an attractive alternative to insulin therapy. We report three cases of neonatal DM and their genetic mutations. Two patients were successfully switched over to sulphonylurea monotherapy with resultant improvement in the quality of life and a more stable blood glucose profile. Patients with neonatal DM should undergo genetic evaluation. For patients with KCNJ11 and ABCC8 gene mutation, oral sulphonylurea should be considered.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Blood Glucose / metabolism
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / therapy*
  • Female
  • Genotype
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Models, Biological
  • Models, Genetic
  • Molecular Biology
  • Mutation*
  • Pancreas / physiology
  • Potassium Channels, Inwardly Rectifying / genetics
  • Quality of Life
  • Receptors, Drug / genetics
  • Sulfonylurea Compounds / therapeutic use
  • Sulfonylurea Receptors

Substances

  • ABCC8 protein, human
  • ATP-Binding Cassette Transporters
  • Blood Glucose
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Receptors, Drug
  • Sulfonylurea Compounds
  • Sulfonylurea Receptors