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

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 de...

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Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Milan 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464369/
https://www.ncbi.nlm.nih.gov/pubmed/21953423
http://dx.doi.org/10.1007/s00592-011-0331-8
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author 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.
author_facet 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.
author_sort Iafusco, D.
collection PubMed
description 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.
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spelling pubmed-34643692012-10-05 Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births 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. Acta Diabetol Short Communication 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. Springer Milan 2011-09-28 2012 /pmc/articles/PMC3464369/ /pubmed/21953423 http://dx.doi.org/10.1007/s00592-011-0331-8 Text en © The Author(s) 2011 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Short Communication
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.
Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
title Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
title_full Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
title_fullStr Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
title_full_unstemmed Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
title_short Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
title_sort minimal incidence of neonatal/infancy onset diabetes in italy is 1:90,000 live births
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464369/
https://www.ncbi.nlm.nih.gov/pubmed/21953423
http://dx.doi.org/10.1007/s00592-011-0331-8
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