Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

What is Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency?

A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.

Other condition names

  • Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form

Inheritance type

Autosomal recessive

Age of Onset

  • Infancy
  • Neonatal
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