Delvecchio Maurizio, Mozzillo Enza, Salzano Giuseppina, Iafusco Dario, Frontino Giulio, Patera Patrizia I, Rabbone Ivana, Cherubini Valentino, Grasso Valeria, Tinto Nadia, Giglio Sabrina, Contreas Giovanna, Di Paola Rosa, Salina Alessandro, Cauvin Vittoria, Tumini Stefano, d'Annunzio Giuseppe, Iughetti Lorenzo, Mantovani Vilma, Maltoni Giulio, Toni Sonia, Marigliano Marco, Barbetti Fabrizio
Department of Pediatric Science and Surgery, Pediatric Hospital "Policlinico-Giovanni XXIII" of Bari, Bari 072006, Italy.
Department of Translational Medical Science, Section of Pediatrics, Regional Center of Pediatric Diabetology, University of Naples Federico II, Naples 80138, Italy.
J Clin Endocrinol Metab. 2017 Jun 1;102(6):1826-1834. doi: 10.1210/jc.2016-2490.
An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis of chronic complications.
The aim of the present study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers and the influence of an etiologic diagnosis on therapy.
DESIGN, SETTING, AND PATIENTS: This was a retrospective study. The clinical records of 3781 consecutive patients (age, 0 to 18 years) referred to 15 pediatric diabetes clinics with a diagnosis of diabetes or impaired fasting glucose from January 1, 2007 to December 31, 2012 were examined. The clinical characteristics of the patients at their first referral to the centers, type 1 diabetes-related autoantibodies, molecular genetics records, and C-peptide measurements, if requested for the etiologic diagnosis, were acquired.
The primary outcome was to assess the percentage of each diabetes subtype in our sample.
Type 1 diabetes represented the main cause (92.4%) of diabetes in this group of patients, followed by monogenic diabetes, which accounted for 6.3% of cases [maturity onset diabetes of the young (MODY), 5.5%; neonatal diabetes mellitus, 0.6%, genetic syndromes, 0.2%]. A genetic diagnosis prompted the transfer from insulin to sulphonylureas in 12 patients bearing mutations in the HNF1A or KCNJ11 genes. Type 2 diabetes was diagnosed in 1% of the patients.
Monogenic diabetes is highly prevalent in patients referred to Italian pediatric diabetes centers. A genetic diagnosis guided the therapeutic decisions, allowed the formulation of a prognosis regarding chronic diabetic complications for a relevant number of patients (i.e.,GCK/MODY), and helped to provide genetic counseling.
糖尿病的病因诊断会影响慢性并发症的治疗策略和预后。
本研究的目的是确定意大利儿科糖尿病中心就诊患者中不同糖尿病亚型的相对比例以及病因诊断对治疗的影响。
设计、地点和患者：这是一项回顾性研究。检查了2007年1月1日至2012年12月31日期间转诊至15家儿科糖尿病诊所、诊断为糖尿病或空腹血糖受损的3781例连续患者（年龄0至18岁）的临床记录。获取了患者首次转诊至中心时的临床特征、1型糖尿病相关自身抗体、分子遗传学记录以及如有病因诊断需求的C肽测量结果。
主要结果是评估我们样本中每种糖尿病亚型的百分比。
1型糖尿病是该组患者糖尿病的主要病因（92.4%），其次是单基因糖尿病，占病例的6.3%[青少年成年起病型糖尿病（MODY），5.5%；新生儿糖尿病，0.6%，遗传综合征，0.2%]。基因诊断促使12例携带HNF1A或KCNJ11基因突变的患者从胰岛素治疗转为磺脲类药物治疗。2型糖尿病在1%的患者中被诊断出来。
单基因糖尿病在转诊至意大利儿科糖尿病中心的患者中非常普遍。基因诊断指导了治疗决策，为相当数量的患者（即GCK/MODY）制定了关于慢性糖尿病并发症的预后，并有助于提供遗传咨询。
