Journal
KIDNEY INTERNATIONAL
Volume 57, Issue 3, Pages 803-808Publisher
BLACKWELL SCIENCE INC
DOI: 10.1046/j.1523-1755.2000.00918.x
Keywords
insulin; potassium channel; sulfonylurea receptor; pancreas
Categories
Funding
- NIDDK NIH HHS [DK52771, DK50750, DK44311] Funding Source: Medline
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [R01DK050750, R01DK052771, R01DK044311, R55DK050750] Funding Source: NIH RePORTER
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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 (K-ATP channel) present in the plasma membrane of pancreatic beta-cells. This channel is formed by two subunits, the high-affinity sulfonyl-urea receptor, SUR1, and K(1R)6.2, a member of the inwardly rectifying family of K+ channels. K-ATP 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 K-ATP channels have been identified in patients with the recessive form of PHHI.
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