Permanent neonatal diabetes mellitus: same mutation, different glycemic control with sulfonylurea therapy on long-term follow-up

J Clin Res Pediatr Endocrinol. 2012 Jun;4(2):107-10. doi: 10.4274/jcrpe.524.

Abstract

Permanent neonatal diabetes mellitus (PNDM) is a rare condition presenting before six months of age. Mutations in the genes encoding the ATP-sensitive potassium (KATP) channel are the most common causes. Sulfonylurea (SU) therapy leads to dramatic improvement in diabetes control and quality of life in most patients who carry these mutations. Here, we report the long-term follow-up results of two siblings with PNDM who were treated with insulin until ABCC8 gene mutation was identified, and were successfully transferred to oral SU therapy. After 3.5 years of follow-up on SU, one patient had a very good response, while the other one had a poor response. Bad compliance to diet was thought to be the most probable reason for poor glycemic control in this patient. In conclusion, molecular genetic diagnosis in all patients with PNDM is recommended. Compliance to treatment should be an important aspect of the follow-up of these patients.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Blood Glucose / metabolism
  • Diabetes Mellitus / blood
  • Diabetes Mellitus / drug therapy*
  • Diabetes Mellitus / genetics*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation*
  • Pedigree
  • Potassium Channels, Inwardly Rectifying / genetics
  • Receptors, Drug / genetics
  • Siblings
  • Sulfonylurea Compounds / therapeutic use*
  • Sulfonylurea Receptors
  • Treatment Outcome

Substances

  • ATP-Binding Cassette Transporters
  • Blood Glucose
  • Potassium Channels, Inwardly Rectifying
  • Receptors, Drug
  • Sulfonylurea Compounds
  • Sulfonylurea Receptors