儿童及青少年无症状性高血糖的病因学异质性

作     者：Feigerlov E. Pruhov S. Dittertov L. J. Lebl 平智广 

作者机构：Department of Paediatrics3rd Faculty of MedicineCharles UniversityVinohradska 159100 81 Prague 10Czech Republic 

出 版 物：《世界核心医学期刊文摘（儿科学分册）》 (Dkgest of the World Latest Medical Information)

年 卷 期：2006年第2卷第12期

页      面：21-22页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：高血糖 无症状性 血糖过高 病因学 葡萄糖激酶 异质性 空腹血糖 葡萄糖耐量 随机血糖 阳性家族史 

摘      要：Introduction:Randomly estimated fasting hyperglycaemia in an asymptomatic individual may represent the first sign of pancreatic β-cell dysfunction. Objective:We aimed at specifying the genetic aetiology of asymptomatic hyperglycaemia in a cohort of children and adolescents. Subjects and methods:We analysed the aetiological diagnosis in 82 non-obese paediatric subjects (38 males) aged 0.2-18.5 years (median:13.1) who were referred for elucidation of a randomly found blood glucose level above 5.5 mmol/l. In addition to fasting glycaemia and circulating levels of insulin and C-peptide,the subjects were tested by an oral glucose tolerance test and an intravenous glucose tolerance test and screened for mutations in the genesen coding glucokinase (GCK),HNF-1α(TCF1),Kir6.2 (KCNJ11)(if aged 2 years) and HNF-4α(HNF4A) (those with a positive family history of diabetes). Results and discussion:We identified 35 carriers of GCK mutations causing MODY2,two carriers of TCF1 mutations causing MODY3,one carrier of a HNF4A mutation causing MODY1 and one carrier of a KCNJ11 mutation causing permanent neonatal diabetes mellitus. Of the remaining patients,11 progressed to type 1 diabetes mellitus(T1DM) and 9 had impaired glucose tolerance or diabetes mellitus of unknown origin. In 23 subjects,an impairment of blood glucose levels was not confirmed. We conclude that 39 of 82 paediatric patients (48%) with randomly found fasting hyperglycaemia suffered from single gene defect conditions,MODY2 being the most prevalent. An additional 11 patients(13%) progressed to overt T1DM. The aetiological diagnosis in asymptomatic hyperglycaemic children and adolescents is a clue to introducing an early and effective therapy or,in MODY2,to preventing any future extensive re-investigations.