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Monogenic Familial Neonatal Diabetes in Preterm Infant With ABCC8 Gene Mutation: Transition to Oral Sulfonylurea

Elizabeth Behre1, Sierra S Donnell2, Nicole Larsen3

  • 1Division of Endocrinology (EB), Seattle Children's Hospital.

The Journal of Pediatric Pharmacology and Therapeutics : JPPT : the Official Journal of PPAG
|February 12, 2025
PubMed

Insights

Sulfonylurea therapy effectively manages neonatal diabetes (NDM) caused by ABCC8 mutations, even in preterm infants. This case highlights empiric treatment and provides guidance on dosing and genetic testing for NDM.

Area of Science:

  • Endocrinology
  • Genetics
  • Neonatal Medicine

Background:

  • Neonatal diabetes (NDM) is a rare condition often caused by mutations in the ABCC8 gene.
  • Sulfonylureas are established treatments for NDM, improving glycemic control and neurodevelopmental outcomes.

Purpose of the Study:

  • To report the first case of empiric sulfonylurea transition in a preterm infant with monogenic NDM.
  • To offer guidance on initial sulfonylurea dosing and family genetic testing in NDM.

Main Methods:

  • A preterm infant diagnosed with NDM was transitioned to oral sulfonylurea therapy empirically before genetic confirmation.
  • Genetic testing confirmed a mutation in the ABCC8 gene, establishing the diagnosis of monogenic NDM.

Main Results:

  • The infant showed positive response to empiric oral sulfonylurea therapy.
  • The study describes the successful transition to sulfonylurea in a preterm infant, a novel approach.

Conclusions:

  • Empiric sulfonylurea therapy is a viable option for preterm infants with suspected monogenic NDM.
  • This case provides valuable insights into sulfonylurea dosing and the importance of genetic testing in NDM management.

Keywords:
ABCC8genetic diagnosisglyburideneonatal diabetesneonatologyperinatal endocrinologypretermsulfonylurea

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