A case of new mutation in maturity-onset diabetes of the young type 3 (MODY 3) responsive to a low dose of sulphonylurea

Diabetes Res Clin Pract. 2008 Jul;81(1):e1-3. doi: 10.1016/j.diabres.2008.03.005. Epub 2008 Apr 22.

Abstract

We describe a girl aged 10.5 years with hyperglycemia, whose mother and maternal father had insulin treated diabetes since adolescence. Using genetic analysis in mother and child, we identified identical new mutation of the HNF-1alpha sequence. Treatment with small doses of sulphonylurea was initiated and that therapy gave good results.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Diabetes Mellitus, Type 2 / drug therapy*
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Hepatocyte Nuclear Factor 1-alpha / genetics*
  • Humans
  • Hyperglycemia / diagnosis
  • Hyperglycemia / genetics
  • Hypoglycemic Agents / therapeutic use*
  • Insulin / therapeutic use
  • Male
  • Mutation*
  • Pregnancy
  • Pregnancy Complications / drug therapy
  • Sulfonylurea Compounds / therapeutic use*

Substances

  • HNF1A protein, human
  • Hepatocyte Nuclear Factor 1-alpha
  • Hypoglycemic Agents
  • Insulin
  • Sulfonylurea Compounds