title: Sulfonylurea-responsive neonatal diabetes mellitus diagnosed through molecular genetics in two children and in one adult after a long period of insulin treatment.
abstract: A permanent neonatal diabetes mellitus has finally been diagnosed through molecular genetics in two children and one adult after 9 to 35 years of uninterrupted insulin treatment. These patients developed diabetes before 6 months of age and were autoantibody negative. In one boy, a mutation in the KCNJ11 gene was identified at 9 years of age. In the other two patients (daughter and father, 12.6 and 25 years old respectively) the new gene variant (ABCC8/L213P) was found. Switching from insulin to sulfonylurea treatment leads to the definitive discontinuance of insulin therapy, improving metabolic control as well as the amelioration of the associated neurodevelopmental disabilities in the young girl in which an intermediate Development Delay, Epilepsy, Neonatal Diabetes syndrome was diagnosed.
authors.affiliation: Postgraduate School of Pediatrics, University of Parma, Parma, Italy.
authors.forename: Lavinia
authors.initials: L
authors.lastname: Fanciullo
authors.forename: Brunella
authors.initials: B
authors.lastname: Iovane
authors.forename: Dimitra
authors.initials: D
authors.lastname: Gkliati
authors.forename: Giorgia
authors.initials: G
authors.lastname: Monti
authors.forename: Ivonne
authors.initials: I
authors.lastname: Sponzilli
authors.forename: Antonina Marta
authors.initials: AM
authors.lastname: Cangelosi
authors.forename: Carla
authors.initials: C
authors.lastname: Matrorilli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Chiari
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Barbetti
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Dall'Aglio
authors.forename: Maurizio
authors.initials: M
authors.lastname: Vanelli
mesh_terms: D002648:Child; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007328:Insulin / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D013453:Sulfonylurea Compounds / Q000627:therapeutic use*; D000099161:Kcnj11 Channel
chemical_list: D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel