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Diabetes Care. 2012 Feb;35(2):248-51. doi: 10.2337/dc11-1469. Epub 2011 Dec 30.

Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations.

Author information

  • 1Department of Diabetes and Endocrinology, Centre Hospitalier Sud Francilien, Corbeil-Essonnes, France. riveline.jeanpierre@neuf.fr

Abstract

OBJECTIVE:

Gain-of-function ABCC8/sulfonylurea (SU) receptor 1 mutations cause neonatal diabetes mellitus (NDM) or late-onset diabetes in adult relatives. Given the effectiveness of SU treatment in ABCC8-NDM patients, we further characterized late-onset ABCC8-associated diabetes.

RESEARCH DESIGN AND METHODS:

Seven adult subjects from three NDM families and one family with type 2 diabetes were studied. Insulin secretion and insulin sensitivity were assessed using clamp techniques. We screened 139 type 2 diabetic patients who were well controlled by SU for ABCC8 mutations.

RESULTS:

ABCC8 mutation carriers exhibited glucose intolerance, frank diabetes, or insulin-requiring diabetes since diagnosis. HbA(1c) improved in five SU-treated patients. Insulin secretion capacity was impaired in three patients compared with adult control subjects but was restored after a 4-week SU trial in two patients. Cohort screening revealed four SU-treated patients with ABCC8 mutations, two of which are likely causal.

CONCLUSIONS:

Although of rare occurrence, recognition of adult-onset ABCC8-associated diabetes may help in targeting patients for SU therapy.

PMID:
22210575
[PubMed - indexed for MEDLINE]
PMCID:
PMC3263906
Free PMC Article
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