马里青年发病1型糖尿病的临床特征、生化和HLA-DRB1状态

IF 4.3 3区 材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC ACS Applied Electronic Materials Pub Date : 2022-12-01 Epub Date: 2022-09-10 DOI:10.1111/pedi.13411
Stéphane Besançon, Denira Govender, Assa Traore Sidibé, Janelle Annette Noble, Amagara Togo, Julie Ann Lane, Steven John Mack, Mark A Atkinson, Clive Henry Wasserfall, Faizy Kakkat, Gregory G N Martin, Graham David Ogle
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引用次数: 3

摘要

目的:关于马里青少年糖尿病的信息有限。我们调查了儿童和青少年新发糖尿病病例的人口学、临床、生化和遗传特征。研究设计和方法:本研究在巴马科的Hôpital du Mali进行。结果:临床诊断为1型糖尿病(T1D) 130例,2型糖尿病(T2D) 1例,继发糖尿病1例。T1D患者男性66例(50.8%),女性64例(49.2%),平均诊断年龄13.8±4.4岁(0.8 ~ 20.7岁),发病高峰15年。糖尿病酮症酸中毒58例(44.6%);IA2阳性28例(21.5%),GAD-65阳性76例(58.5%),两种自身抗体均阳性15例(11.5%)。195名没有糖尿病的对照组也进行了HLA基因分型。对照和98例T1D患者HLA-DRB1基因分型结果显示,DRB1*03:01、DRB1*04:05和DRB1*09:01等位基因为T1D易感基因(比值比分别为2.82、14.76和3.48,p值分别为9.68E-5、2.26E-10和8.36E-4), DRB1*15:03为保护性基因(OR = 0.27;p值= 1.73E-3)。有无GAD-65和IA2自身抗体的T1D患者之间无显著差异。有趣的是,诊断时T1D患者的平均c肽为3.6±2.7 ng/ml(1.2±0.9 nmol/L)。结论:诊断为T1D的患者c肽值高于预期,自身抗体率低于欧洲人群。很可能有些病例有不典型的T1D、酮症倾向的T2D或青年发病的T2D。这项研究将有助于指导马里糖尿病病例的评估和个人管理,可能会带来更健康的结果。
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Clinical features, biochemistry, and HLA-DRB1 status in youth-onset type 1 diabetes in Mali.

Objective: Limited information is available regarding youth-onset diabetes in Mali. We investigated demographic, clinical, biochemical, and genetic features in new diabetes cases in children and adolescents.

Research design and methods: The study was conducted at Hôpital du Mali in Bamako. A total of 132 recently-diagnosed cases <21 years were enrolled. Demographic characteristics, clinical information, biochemical parameters (blood glucose, HbA1c, C-peptide, glutamic acid decarboxylase-65 (GAD-65) and islet antigen-2 (IA2) autoantibodies) were assessed. DNA was genotyped for HLA-DRB1 using high-resolution genotyping technology.

Results: A total of 130 cases were clinically diagnosed as type 1 diabetes (T1D), one with type 2 diabetes (T2D), and one with secondary diabetes. A total of 66 (50.8%) T1D cases were males and 64 (49.2%) females, with a mean age at diagnosis of 13.8 ± 4.4 years (range 0.8-20.7 years) peak onset of 15 years. 58 (44.6%) presented in diabetic ketoacidosis; with 28 (21.5%) IA2 positive, 76 (58.5%) GAD-65 positive, and 15 (11.5%) positive for both autoantibodies. HLA was also genotyped in 195 controls without diabetes. HLA-DRB1 genotyping of controls and 98 T1D cases revealed that DRB1*03:01, DRB1*04:05, and DRB1*09:01 alleles were predisposing for T1D (odds ratios [ORs]: 2.82, 14.76, and 3.48, p-values: 9.68E-5, 2.26E-10, and 8.36E-4, respectively), while DRB1*15:03 was protective (OR = 0.27; p-value = 1.73E-3). No significant differences were observed between T1D cases with and without GAD-65 and IA2 autoantibodies. Interestingly, mean C-peptide was 3.6 ± 2.7 ng/ml (1.2 ± 0.9 nmol/L) in T1D cases at diagnosis.

Conclusions: C-peptide values were higher than expected in those diagnosed as T1D and autoantibody rates lower than in European populations. It is quite possible that some cases have an atypical form of T1D, ketosis-prone T2D, or youth-onset T2D. This study will help guide assessment and individual management of Malian diabetes cases, potentially enabling healthier outcomes.

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