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

• Published in: Acta diabetologica Vol. 49; no. 5; pp. 405 - 408
• Main Authors: Iafusco, D., Massa, O., Pasquino, B., Colombo, C., Iughetti, L., Bizzarri, C., Mammì, C., Lo Presti, D., Suprani, T., Schiaffini, R., Nichols, Colin G., Russo, L., Grasso, V., Meschi, F., Bonfanti, R., Brescianini, S., Barbetti, F.
• Format: Journal Article
• Language: English
• Published: Milan Springer Milan 01-10-2012; Springer Nature B.V
• Subjects: Diabetes; Diabetes Mellitus, Type 1 - epidemiology; Diabetes Mellitus, Type 1 - genetics; Epidemiology; Female; Humans; Incidence; Infant; Infant, Newborn; Infant, Newborn, Diseases - epidemiology; Infant, Newborn, Diseases - genetics; Internal Medicine; Italy - epidemiology; Live Birth; Male; Medicine; Medicine & Public Health; Metabolic Diseases; Mutation; Newborn babies; Short Communication; Italy; Permanent neonatal diabetes mellitus; Neonatal diabetes mellitus; Transient neonatal diabetes mellitus; Incidence
• ISSN: 0940-5429; 1432-5233
• DOI: 10.1007/s00592-011-0331-8

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.