Article
Sulfonylurea-responsive neonatal diabetes mellitus diagnosed through molecular genetics in two children and in one adult after a long period of insulin treatment.
Acta bio-medica : Atenei Parmensis - 1 Apr 2012
Fanciullo Lavinia, Iovane Brunella, Gkliati Dimitra, Monti Giorgia, Sponzilli Ivonne, Cangelosi Antonina Marta, Matrorilli Carla, Chiari Giovanni, Barbetti Fabrizio, Dall'Aglio Elisabetta, Vanelli Maurizio
Abstract excerpt
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...
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