Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
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DOI：
10.1007/s00592-011-0331-8
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发表时间：
2012-10-01
影响因子：
3.8
通讯作者：
Barbetti, F.
中科院分区：
文献类型：
--
作者：
Iafusco, D.;Massa, O.;Barbetti, F.
直到2000年初，永久性和短暂性新生儿糖尿病（NDM）被定义为出生后6周内发作的糖尿病，需要胰岛素治疗至少2周，被认为是非常罕见的疾病，全球发病率为1：500，000 -1：400，000活产婴儿。最近采用的NDM的新定义，包括6个月内发病的糖尿病患者，促使研究将永久性形式的发病率设定为1：210，000至1：260，000活产婴儿。本研究的目的是确定2005-2010年意大利NDM（即永久性+一过性）的发病率。回顾了2005年至2010年期间因NDM转诊至意大利参考实验室的患者，并对常见NDM基因（KCNJ 11，ABCC 8和INS）突变和6号染色体（UDP 6）单亲异二体性进行了筛查。一份旨在识别在其他实验室调查的NDM病例的问卷被发送到54个意大利儿科糖尿病参考中心。2005年至2010年间出生的27名NDM患者被转诊至参考实验室。在该组中，在18名患者中发现了KCNJ 11，ABCC 8或INS突变，并确定了UDP 6病例。研究人员发现，另外4例因UDP 6引起的一过性新生儿糖尿病病例。NDM的发病率计算为1：90，000（CI：1：63，000 -1：132，000）活产。因此，根据目前使用的定义，预计意大利每年将有约6例新的NDM病例出生。
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.