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

A Hartemann-Heurtier; A Simon; C Bellanné-Chantelot; R Reynaud; H Cavé; M Polak; M Vaxillaire; A Grimaldi

doi:10.1016/j.diabet.2009.01.003

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

Diabetes Metab. 2009 Jun;35(3):233-5. doi: 10.1016/j.diabet.2009.01.003. Epub 2009 Apr 1.

Authors

A Hartemann-Heurtier¹, A Simon, C Bellanné-Chantelot, R Reynaud, H Cavé, M Polak, M Vaxillaire, A Grimaldi

Affiliation

¹ Endocrinology, Nutrition and Diabetes Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, 75651 Paris cedex 13, France. [email protected]

PMID: 19342262
DOI: 10.1016/j.diabet.2009.01.003

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.

MeSH terms

ATP-Binding Cassette Transporters / genetics*
Adolescent
Adult
Autoantibodies / blood*
Diabetes Mellitus, Type 1 / genetics*
Diabetes Mellitus, Type 1 / immunology*
Female
Hepatocyte Nuclear Factor 1-alpha / genetics
Humans
Infant, Newborn
Infant, Newborn, Diseases / genetics
Male
Middle Aged
Mutation*
Potassium Channels, Inwardly Rectifying / genetics*
Receptors, Drug / genetics*
Sulfonylurea Receptors

Substances

ATP-Binding Cassette Transporters
Autoantibodies
HNF1A protein, human
Hepatocyte Nuclear Factor 1-alpha
Kir6.2 channel
Potassium Channels, Inwardly Rectifying
Receptors, Drug
Sulfonylurea Receptors