Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels

Kidney Int. 2000 Mar;57(3):803-8. doi: 10.1046/j.1523-1755.2000.00918.x.


Familial hyperinsulinism, also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI), is a genetic disease characterized by mild to severe hypoglycemia in the presence of inappropriately high levels of insulin. The recessive form is caused by mutations in the adenosine 5'-triphosphate (ATP)-sensitive K+ channel (KATP channel) present in the plasma membrane of pancreatic beta-cells. This channel is formed by two subunits, the high-affinity sulfonylurea receptor, SUR1, and KIR6.2, a member of the inwardly rectifying family of K+ channels. KATP channels regulate insulin secretion by linking membrane excitability with glucose metabolism. Approximately 50 mutations, in both channel subunits, that abolish or alter the regulation of beta-cell KATP channels have been identified in patients with the recessive form of PHHI.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adenosine Triphosphate / physiology*
  • Humans
  • Hyperinsulinism / genetics*
  • Hyperinsulinism / metabolism*
  • Islets of Langerhans / metabolism*
  • Mutation / physiology
  • Potassium Channels / genetics
  • Potassium Channels / metabolism*


  • Potassium Channels
  • Adenosine Triphosphate