ONG Santé Diabète, Bamako, Mali.
Life for a Child Program, Diabetes NSW & ACT, Glebe, New South Wales, Australia.
Pediatr Diabetes. 2022 Dec;23(8):1552-1559. doi: 10.1111/pedi.13411. Epub 2022 Sep 10.
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.
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.
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 DRB103:01, DRB104:05, and DRB109:01 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 DRB115:03 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.
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.
马里有关青少年起病型糖尿病的信息有限。我们研究了新诊断的儿童和青少年糖尿病病例的人口统计学、临床、生化和遗传特征。
该研究在巴马科的马里医院进行。共纳入了 132 例新近诊断的<21 岁的病例。评估了人口统计学特征、临床信息、生化参数（血糖、HbA1c、C 肽、谷氨酸脱羧酶-65（GAD-65）和胰岛抗原-2（IA2）自身抗体）。使用高分辨率基因分型技术对 HLA-DRB1 进行 DNA 基因分型。
130 例临床诊断为 1 型糖尿病（T1D），1 例为 2 型糖尿病（T2D），1 例为继发性糖尿病。66 例（50.8%）T1D 为男性，64 例（49.2%）为女性，诊断时的平均年龄为 13.8±4.4 岁（范围 0.8-20.7 岁），发病高峰为 15 岁。58 例（44.6%）出现糖尿病酮症酸中毒；28 例（21.5%）IA2 阳性，76 例（58.5%）GAD-65 阳性，15 例（11.5%）两种自身抗体均阳性。还对 195 名无糖尿病的对照者进行了 HLA 基因分型。对照者和 98 例 T1D 病例的 HLA-DRB1 基因分型显示，DRB103:01、DRB104:05 和 DRB109:01 等位基因易患 T1D（比值比[OR]：2.82、14.76 和 3.48，p 值：9.68E-5、2.26E-10 和 8.36E-4），而 DRB115:03 具有保护作用（OR=0.27；p 值=1.73E-3）。GAD-65 和 IA2 自身抗体阳性和阴性的 T1D 病例之间未观察到显著差异。有趣的是，T1D 病例在诊断时的平均 C 肽水平为 3.6±2.7ng/ml（1.2±0.9nmol/L）。
在被诊断为 T1D 的患者中，C 肽值高于预期，而自身抗体率低于欧洲人群。很有可能某些病例存在非典型 1 型糖尿病、酮症倾向 2 型糖尿病或青少年起病 2 型糖尿病。本研究将有助于指导马里糖尿病病例的评估和个体化管理，从而可能实现更健康的结果。
