【摘要】 目的探讨青少年与成人期发病的1型糖尿病患者临床表现、自身免疫和遗传学异质性。方法2002年6月至2003年12月就诊于哈尔滨医科大学附属第二医院内分泌科的34例青少年发病(发病年龄≤25岁)和53例成人发病(发病年龄>25岁)1型糖尿病患者,比较其主要临床特点,自身抗体的阳性率和水平,并用聚合酶链式反应-顺序特异性探针方法(PCR-SSP)检测患者的人白细胞抗原(HLA)上不同等位基因的频率。结果(1)在临床表现方面,两组患者中成人患者以葡萄糖刺激后2hC肽(2hCP)较高,体重指数(BMI)和腰臀围比(WHR)较大,甘油三酯(TG)较高;(2)血清免疫学方面,青少年患者血清蛋白酪氨酸磷酸酯酶样蛋白抗体(IA2-Ab)水平明显高于成人患者(P<0·01),其它抗体在两组间差异无显著性;(3)遗传学方面,HLA-DQB1*0201频率在成人发病患者中低于青少年发病患者(13·2%对58·8%,P<0·01),携带HLA-DQB1*0201的患者IA2-Ab水平较高。结论与青少年发病的1型糖尿病患者比较,成人发病患者具有较好的胰岛功能和更多的2型糖尿病表型特征,HLA-DQB1*0201和IA2-Ab可能在决定青少年和成人患者的临床异质性方面起核心作用。更多还原

【Abstract】 Objective To assess the clinical,autoimmune and genetic heterogeneity between type 1 diabetes onseting at the adolescent and adult.Methods 87 Chinese type 1 diabetes patients were taken into the study and classified into 2 groups: 34 adolescents(onset age ≤25)and 53 adults(onset age >25 year).The patients were analyzed for the clinical characteristics.Autoantibodies to glutamic acid decarboxylase 65(GAD65-Ab),insulin(I-Ab)and autoantobodies to protein tyrosine phosphatase-like proteins(IA2-Ab)were assayed.HLA-DRB1,DQA1,DQB1 alleles(HLA-DRB1*03,*04,*09,*15,DQB1*0201,*0302,*0601,DQA1*0301,*0501)were typing by PCR-sequence specific primer(PCR-SSP).Results A little higher proportion of males,a longer duration of disease; a higher BMI and WHR characterized the adult-onset patients.The adults have a higher level of triglycerides and 120 min C-peptides than adolescent.The frequency and level of IA2-Ab of the adolescents were higher than adults(47.1% vs 15.1% and 0.46 U·mL~ -1 vs 0.07 U·mL~ -1 ,respectively,P<0.01).The adult patients carried the high-risk DQB1*0201 allele less frequently than the adolescent(13.2% vs 58.8%,P<0.01).Relevantly,adults with the DQ phenotype and haplotype containing DQB1*0201 were less than adolescents.Furthermore,the patients with HLA-DQB1*0201 have the higher levels of IA2-Ab than the patients without the allele.Conclusion The adults-onset type 1 has different clinic phenotype compared with the adolescent-onset one by having a stronger tendency to type 2 diabetes.Genetic and autoimmune factors maybe play an important role in the process.HLA-DQB1*0201 and IA2-Ab are likely to accelerate the islet B cell destructive process.更多还原