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Clinical and Metabolic Features of Adult-Onset Diabetes Caused by ABCC8 Mutations.
MedLine Citation:
PMID:  22210575     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVEGain-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 METHODSSeven 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.RESULTSABCC8 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.CONCLUSIONSAlthough of rare occurrence, recognition of adult-onset ABCC8-associated diabetes may help in targeting patients for SU therapy.
Authors:
Jean-Pierre Riveline; Elise Rousseau; Yves Reznik; Sabrina Fetita; Julien Philippe; Aurélie Dechaume; Agnès Hartemann; Michel Polak; Catherine Petit; Guillaume Charpentier; Jean-François Gautier; Philippe Froguel; Martine Vaxillaire
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-12-30
Journal Detail:
Title:  Diabetes care     Volume:  -     ISSN:  1935-5548     ISO Abbreviation:  -     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2012-1-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7805975     Medline TA:  Diabetes Care     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Diabetes and Endocrinology, Centre Hospitalier Sud Francilien, Corbeil-Essonnes, France.
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