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Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11

Wojciech Mlynarski1, Andrei I Tarasov, Agnieszka Gach

  • 1Department of Pediatrics, Medical University of Lodz, Lodz, Poland.

Nature Clinical Practice. Neurology
|November 6, 2007
PubMed

Insights

Neonatal diabetes caused by KCNJ11 mutations can be treated with sulfonylureas. This treatment improved both glucose control and developmental delays in a pediatric patient.

Area of Science:

  • Genetics
  • Endocrinology
  • Neuroscience

Background:

  • A 12-week-old female presented with neonatal diabetes, initially managed with insulin.
  • Despite insulin therapy, the patient exhibited significant motor and mental developmental delays.

Observation:

  • Genetic evaluation at age 6 revealed a KCNJ11 gene mutation (His46Leu).
  • This mutation affects the Kir6.2 subunit of the ATP-sensitive potassium (K(ATP)) channel, reducing ATP sensitivity.

Findings:

  • In vitro studies confirmed the mutant K(ATP) channels were inhibited by sulfonylureas like glibenclamide.
  • Glibenclamide treatment improved glucose homeostasis and enhanced mental and motor function.

Implications:

  • KCNJ11 mutations causing neonatal diabetes can be effectively treated with sulfonylureas.
  • This therapeutic approach offers a potential alternative to insulin, improving both glycemic control and neurodevelopmental outcomes.
Abstract

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