Short Communication

Acta Diabetologica

, Volume 49, Issue 5, pp 405-408

Open Access This content is freely available online to anyone, anywhere at any time.

Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births

  • D. IafuscoAffiliated withDepartment of Pediatrics, Second University of Naples
  • , O. MassaAffiliated withLaboratory of Mendelian Diabetes, Bambino Gesù Children’s Hospital, IRCCS
  • , B. PasquinoAffiliated withDepartment of Pediatrics, Regional Hospital
  • , C. ColomboAffiliated withLaboratory of Mendelian Diabetes, Bambino Gesù Children’s Hospital, IRCCS
  • , L. IughettiAffiliated withDepartment of Pediatrics, University of Modena and Reggio Emilia
  • , C. BizzarriAffiliated withEndocrine Unit, Bambino Gesù Children’s Hospital, IRCCS
  • , C. MammìAffiliated withMedical Genetics Unit, Bianchi Melacrino Morelli Hospital
  • , D. Lo PrestiAffiliated withDepartment of Pediatrics, University of Catania
  • , T. SupraniAffiliated withDepartment of Pediatrics, Maurizio Bufalini Hospital
    • , R. SchiaffiniAffiliated withEndocrine Unit, Bambino Gesù Children’s Hospital, IRCCS
    • , Colin G. NicholsAffiliated withLaboratory of Mendelian Diabetes, Bambino Gesù Children’s Hospital, IRCCSDepartment of Cell Biology and Physiology, Washington University School of Medicine
    • , L. RussoAffiliated withLaboratory of Mendelian Diabetes, Bambino Gesù Children’s Hospital, IRCCS
    • , V. GrassoAffiliated withDepartment of Laboratory Medicine, Tor Vergata University Hospital
    • , F. MeschiAffiliated withDepartment of Pediatrics, Second University of NaplesDepartment of Pediatrics, H S Raffaele Hospital and Scientific Institute
    • , R. BonfantiAffiliated withDepartment of Pediatrics, Second University of NaplesDepartment of Pediatrics, H S Raffaele Hospital and Scientific Institute
    • , S. BrescianiniAffiliated withDepartment of Pediatrics, Second University of NaplesDepartment of Epidemiology, Istituto Superiore di Sanità
    • , F. BarbettiAffiliated withDepartment of Pediatrics, Second University of NaplesLaboratory of Mendelian Diabetes, Bambino Gesù Children’s Hospital, IRCCSDepartment of Internal Medicine, University of Tor Vergata Email author 
    • , The Early Diabetes Study Group of ISPED

Abstract

Until early 2000, permanent and transient neonatal diabetes mellitus (NDM), defined as diabetes with onset within 6 weeks from birth that requires insulin therapy for at least 2 weeks, were considered exceedingly rare conditions, with a global incidence of 1:500,000–1:400,000 live births. The new definition of NDM recently adopted, that includes patients with diabetes onset within 6 months of age, has prompted studies that have set the incidence of the permanent form alone between 1:210,000 and 1:260,000 live births. Aim of the present work was to ascertain the incidence of NDM (i.e. permanent + transient form) in Italy for years 2005–2010. Patients referred to the Italian reference laboratory for NDM between years 2005 and 2010 and screened for mutations in common NDM genes (KCNJ11, ABCC8, and INS) and for uniparental isodisomy of chromosome 6 (UDP6) were reviewed. A questionnaire aimed at identifying NDM cases investigated in other laboratories was sent to 54 Italian reference centers for pediatric diabetes. Twenty-seven patients with NDM born between 2005 and 2010 were referred to the reference laboratory. In this group, a mutation of either KCNJ11, ABCC8 or INS was found in 18 patients, and a case with UDP6 was identified. Questionnaires revealed 4 additional cases with transient neonatal diabetes due to UDP6. Incidence of NDM was calculated at 1:90,000 (CI: 1:63,000–1:132,000) live births. Thus, with the definition currently in use, about 6 new cases with NDM are expected to be born in Italy each year.

Keywords

Neonatal diabetes mellitus Permanent neonatal diabetes mellitus Transient neonatal diabetes mellitus Incidence