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

• DOI: 10.1007/s00592-011-0331-8
• Publication Date: 2011-09-27T03:35:55Z
• Authors: D. Iafusco; O. Massa; B. Pasquino; C. Colombo; L. Iughetti; C. Bizzarri; C. Mammì; D. Lo Presti; T. Suprani; R. Schiaffini; Colin G. Nichols; L. Russo; V. Grasso; F. Meschi; R. Bonfanti; S. Brescianini; F. Barbetti
• Keywords: Male; Endocrinology, Diabetes and Metabolism; Short Communication; KCNJ11 gene; ABCC8 gene; INS gene; neonatal diabetes; Infant, Newborn, Diseases; 03 medical and health sciences; Endocrinology; 0302 clinical medicine; 616; Internal Medicine; Transient neonatal diabetes mellitus; Humans; Permanent neonatal diabetes mellitus; Neonatal diabetes mellitus; Incidence; Infant, Newborn; Infant; Settore MED/13 - ENDOCRINOLOGIA; 3. Good health; Diabetes Mellitus, Type 1; Italy; Mutation; Female; Live Birth

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