Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes

Diabetes Metab. 2009 Jun;35(3):233-5. doi: 10.1016/j.diabet.2009.01.003. Epub 2009 Apr 1.

Abstract

Activating mutations in genes KCNJ11 and ABCC8, which form the ATP-sensitive K+channel (K(ATP) channel), have been shown to cause transient or permanent neonatal diabetes. We describe here a rather different phenotype: two cases of adult diabetic patients-considered and treated as insulin-dependent diabetic patients since adolescence-who, in fact, turned out to be heterozygous for an ABCC8 mutation and able to successfully discontinue insulin while taking sulphonylurea treatment.

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adolescent
  • Adult
  • Autoantibodies / blood*
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology*
  • Female
  • Hepatocyte Nuclear Factor 1-alpha / genetics
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Receptors, Drug / genetics*
  • Sulfonylurea Receptors

Substances

  • ATP-Binding Cassette Transporters
  • Autoantibodies
  • HNF1A protein, human
  • Hepatocyte Nuclear Factor 1-alpha
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Receptors, Drug
  • Sulfonylurea Receptors