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KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life

Oscar Rubio-Cabezas1, Sarah E Flanagan, Annet Damhuis

  • 1Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, EX2 5DW Exeter, UK.

Pediatric Diabetes
|October 11, 2011
PubMed

Insights

K(ATP) channel mutations cause neonatal diabetes, often treated with sulfonylureas. Genetic testing is recommended up to 9 months, as mutations are found in some infants presenting later, who may benefit from sulfonylurea treatment.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Mutations in K(ATP) channel genes are the most frequent cause of permanent neonatal diabetes.
  • Most patients achieve good glycemic control with sulfonylurea treatment.
  • Genetic testing is currently advised for infants diagnosed before 6 months of age.

Purpose of the Study:

  • To investigate the prevalence of K(ATP) channel diabetes in infants diagnosed between 6 and 12 months of age.
  • To evaluate the clinical utility of extending genetic testing beyond 6 months.

Main Methods:

  • Sequencing of KCNJ11 and ABCC8 genes.
  • Study cohort included 115 infants diagnosed between 6–12 months and 405 diagnosed before 6 months.

Main Results:

  • K(ATP) channel mutations were identified in 48.6% of infants diagnosed before 6 months.
  • Mutations were found in 4.2% of infants diagnosed between 6–9 months, but none after 9 months.
  • Two infants diagnosed after 6 months were successfully switched from insulin to sulfonylureas.

Conclusions:

  • K(ATP) channel mutations are infrequent causes of diabetes in infants presenting after 6 months.
  • Extending K(ATP) mutation testing to infants diagnosed up to 9 months is recommended due to potential clinical benefits.
  • Early identification allows for sulfonylurea treatment, improving glycemic control and potentially avoiding insulin therapy.
Abstract

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