title: Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.
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.
authors.affiliation: Endocrinology, Nutrition and Diabetes Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, 75651 Paris cedex 13, France. agnes.heurtier@psl.ap-hop-paris.fr
authors.forename: A
authors.initials: A
authors.lastname: Hartemann-Heurtier
authors.forename: A
authors.initials: A
authors.lastname: Simon
authors.forename: C
authors.initials: C
authors.lastname: Bellanné-Chantelot
authors.forename: R
authors.initials: R
authors.lastname: Reynaud
authors.forename: H
authors.initials: H
authors.lastname: Cavé
authors.forename: M
authors.initials: M
authors.lastname: Polak
authors.forename: M
authors.initials: M
authors.lastname: Vaxillaire
authors.forename: A
authors.initials: A
authors.lastname: Grimaldi