Referenced in: none

Automatically associated channels: Kir1.1 , Kir6.2

Title: Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.

Authors: A Hartemann-Heurtier, A Simon, C Bellanne-Chantelot, R Reynaud, H Cavé, M Polak, M Vaxillaire, A Grimaldi

Journal, date & volume: Diabetes Metab., 2009 Jun , 35, 233-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/19342262

Abstract
Activating mutations in genes KCNJ11 and ABCC8, which form the ATP-sensitive K+channel (K(ATP) channel), have been shown to cause transient or permanent neonatal diabetes. We describe here a rather different phenotype: two cases of adult diabetic patients-considered and treated as insulin-dependent diabetic patients since adolescence-who, in fact, turned out to be heterozygous for an ABCC8 mutation and able to successfully discontinue insulin while taking sulphonylurea treatment.