Minimal incidence of neonatal-infancy onset diabetes in Italy is 1:90,000 live birthsReport as inadecuate

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Acta Diabetologica

, Volume 49, Issue 5, pp 405–408

First Online: 28 September 2011Received: 08 August 2011Accepted: 25 August 2011


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.

KeywordsNeonatal diabetes mellitus Permanent neonatal diabetes mellitus Transient neonatal diabetes mellitus Incidence AbbreviationsISPEDItalian society for pediatric endocrinology and diabetes

MDIMonogenic diabetes of infancy

NDMNeonatal diabetes mellitus

TNDMTransient neonatal diabetes mellitus

PNDMPermanent neonatal diabetes mellitus

UPD6Uniparental isodisomy of chromosome 6

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Author: D. Iafusco - O. Massa - B. Pasquino - C. Colombo - L. Iughetti - C. Bizzarri - C. Mammì - D. Lo Presti - T. Suprani - R.


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