Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell

Recessive mutations in ABCC8/KCNJ11 of beta-cell K(ATP) channel generally cause severe medically unresponsive hyperinsulinemic hypoglycemia (HH). Rarer dominant mutations in these genes have been described that mostly cause milder, medically responsive congenital hyperinsulinism. Rarer dominant muta...

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Bibliographic Details
Published in:	Journal of pediatric endocrinology & metabolism : JPEM Vol. 24; no. 11-12; p. 1019
Main Authors:	Oçal, Gönül, Flanagan, Sarah E, Hacihamdioğlu, Bülent, Berberoğlu, Merih, Siklar, Zeynep, Ellard, Sian, Savas Erdeve, Senay, Okulu, Emel, Akin, Ilke Mungan, Atasay, Begum, Arsan, Saadet, Yağmurlu, Aydin
Format:	Journal Article
Language:	English
Published:	Germany 01-12-2011
Subjects:	Adolescent ATP-Binding Cassette Transporters - genetics Birth Weight - genetics Child Child, Preschool Congenital Hyperinsulinism - genetics Congenital Hyperinsulinism - physiopathology Congenital Hyperinsulinism - therapy Female Genes, Dominant Genes, Recessive Humans Insulin-Secreting Cells - physiology KATP Channels - genetics Male Pedigree Potassium Channels, Inwardly Rectifying - genetics Receptors, Drug - genetics Sulfonylurea Receptors Treatment Outcome
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