Sulfonylurea-responsive neonatal diabetes mellitus diagnosed through molecular genetics in two children and in one adult after a long period of insulin treatment

Lavinia Fanciullo, Brunella Iovane, Dimitra Gkliati, Giorgia Monti, Ivonne Sponzilli, Antonina Marta Cangelosi, Carla Matrorilli, Giovanni Chiari, Fabrizio Barbetti, Elisabetta Dall'Aglio, Maurizio Vanelli

Research output: Contribution to journalArticlepeer-review

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, (www.actabiomedica.it).

Original languageEnglish
Pages (from-to)56-61
Number of pages6
JournalActa Biomedica
Volume83
Issue number1
Publication statusPublished - 2012

Keywords

  • DEND
  • Molecular genetics
  • Neonatal diabetes mellitus
  • PNDM
  • Sulfonylurea

ASJC Scopus subject areas

  • Medicine(all)

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