title: Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births.
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.
authors.affiliation: Department of Pediatrics, Second University of Naples, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Iafusco
authors.forename: O
authors.initials: O
authors.lastname: Massa
authors.forename: B
authors.initials: B
authors.lastname: Pasquino
authors.forename: C
authors.initials: C
authors.lastname: Colombo
authors.forename: L
authors.initials: L
authors.lastname: Iughetti
authors.forename: C
authors.initials: C
authors.lastname: Bizzarri
authors.forename: C
authors.initials: C
authors.lastname: Mammì
authors.forename: D
authors.initials: D
authors.lastname: Lo Presti
authors.forename: T
authors.initials: T
authors.lastname: Suprani
authors.forename: R
authors.initials: R
authors.lastname: Schiaffini
authors.forename: Colin G
authors.initials: CG
authors.lastname: Nichols
authors.forename: L
authors.initials: L
authors.lastname: Russo
authors.forename: V
authors.initials: V
authors.lastname: Grasso
authors.forename: F
authors.initials: F
authors.lastname: Meschi
authors.forename: R
authors.initials: R
authors.lastname: Bonfanti
authors.forename: S
authors.initials: S
authors.lastname: Brescianini
authors.forename: F
authors.initials: F
authors.lastname: Barbetti
mesh_terms: D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000453:epidemiology* / Q000235:genetics; D007558:Italy / Q000453:epidemiology; D050498:Live Birth; D008297:Male; D009154:Mutation