Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment

J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1279-86. doi: 10.1515/jpem-2015-0170.

Abstract

Background: Neonatal diabetes has not been previously studied in Ukraine. We investigated the genetic etiology in patients with onset of diabetes during the first 9 months of life.

Methods: We established a Pediatric Diabetes Register to identify patients diagnosed with diabetes before 9 months of age. Genetic testing was undertaken for 42 patients with permanent or transient diabetes diagnosed within the first 6 months of life (n=22) or permanent diabetes diagnosed between 6 and 9 months (n=20).

Results: We determined the genetic etiology in 23 of 42 (55%) patients; 86% of the patients diagnosed before 6 months and 20% diagnosed between 6 and 9 months. The incidence of neonatal diabetes in Ukraine was calculated to be 1 in 126,397 live births.

Conclusions: Genetic testing for patients identified through the Ukrainian Pediatric Diabetes Register identified KCNJ11 and ABCC8 mutations as the most common cause (52%) of neonatal diabetes. Transfer to sulfonylureas improved glycemic control in all 11 patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diabetes Mellitus, Type 1 / drug therapy
  • Diabetes Mellitus, Type 1 / epidemiology*
  • Diabetes Mellitus, Type 1 / genetics
  • Female
  • Genetic Testing
  • Humans
  • Hypoglycemic Agents / therapeutic use
  • Incidence
  • Infant
  • Infant, Newborn
  • Infant, Newborn, Diseases / drug therapy
  • Infant, Newborn, Diseases / epidemiology*
  • Infant, Newborn, Diseases / genetics
  • Male
  • Mutation*
  • Phenotype
  • Potassium Channels, Inwardly Rectifying / genetics
  • Registries
  • Sulfonylurea Compounds / therapeutic use
  • Sulfonylurea Receptors / genetics
  • Ukraine / epidemiology

Substances

  • ABCC8 protein, human
  • Hypoglycemic Agents
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Sulfonylurea Compounds
  • Sulfonylurea Receptors