Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.
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.
Hartemann-Heurtier
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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
Simon
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Bellanné-Chantelot
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Reynaud
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Cavé
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Polak
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Vaxillaire
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Grimaldi
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