Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
What is Autosomal dominant hyperinsulinism due to Kir6.2 deficiency?
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).
Other condition names
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Dominant KATP hyperinsulinism due to Kir6.2 deficiency