Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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). Disease data Classification Disease Synonyms Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Autosomalna dominująca hipoglikemia hiperinsulinemiczna z powodu niedoboru Kir6.2 Dominant KATP hyperinsulinism due to Kir6.2 deficiency ORPHA code 276580 OMIM code 601820 ICD10 code E16.1 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl