Article
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
Diabetes - 1 Jan 2011
Loechner Karen J, Akrouh Alejandro, Kurata Harley T, Dionisi-Vici Carlo, Maiorana Arianna, Pizzoferro Milena, Rufini Vittoria, de Ville de Goyet Jean, Colombo Carlo, Barbetti Fabrizio, Koster Joseph C, Nichols Colin G
Abstract excerpt
OBJECTIVE: The ATP-sensitive K(+) channel (K(ATP)) controls insulin secretion from the islet. Gain- or loss-of-function mutations in channel subunits underlie human neonatal diabetes and congenital hyperinsulinism (HI), respectively. In this study, we sought to identify the mechanistic basis of K(ATP)-induced HI in two probands and to characterize the clinical course. RESEARCH DESIGN AND METHODS: We analyzed HI...
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