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巴基斯坦青少年 1 型糖尿病的临床特征、生物化学和 HLA-DRB1 状态。

Clinical features, biochemistry and HLA-DRB1 status in youth-onset type 1 diabetes in Pakistan.

机构信息

Biochemistry Department, Baqai Medical University, Gadap, Karachi, Pakistan; Baqai Institute of Diabetology and Endocrinology, Nazimabad, Karachi, Pakistan.

Life for a Child, Glebe, NSW 2037, Australia; Sydney Medical School, University of Sydney, NSW 2006, Australia.

出版信息

Diabetes Res Clin Pract. 2019 Mar;149:9-17. doi: 10.1016/j.diabres.2019.01.023. Epub 2019 Jan 30.

DOI:10.1016/j.diabres.2019.01.023
PMID:30710658
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6456725/
Abstract

Published information on diabetes in Pakistani youth is limited. We aimed to investigate the demographic, clinical, and biochemical features, and HLA-DRB1 alleles in new cases of diabetes affecting children and adolescents <22 years of age. The study was conducted at Baqai Institute of Diabetology and Endocrinology in Karachi from June 2013-December 2015. One hundred subjects aged <22 years at diagnosis were enrolled. Demographic characteristics, clinical information, biochemical parameters (blood glucose, HbA1c, C-peptide, glutamic acid decarboxylase 65 (GAD65) and islet antigen 2 (IA-2) autoantibodies) were measured. DNA from 100 subjects and 200 controls was extracted and genotyped for HLA-DRB1 using high-resolution genotyping technology. Ninety-nine subjects were clinically diagnosed as type 1 diabetes (T1D) and one as type 2 diabetes (T2D). Of the 99 with T1D, 57 (57.6%) were males and 42 (42.4%) females, with mean age at diagnosis 11.0 ± 5.2 years (range 1.6-21.7 years) and peaks at six and fifteen years. Fifty-seven subjects were assessed within one month of diagnosis and all within eleven months. For the subjects diagnosed as T1D, mean C-peptide was 0.63 ± 0.51 nmol/L (1.91 ± 1.53 ng/mL), with 16 (16.2%) IA2 positive, 53 (53.5%) GAD-65 positive, and 10 (10.1%) positive for both autoantibodies. In T1D patients, the allele DRB103:01 demonstrated highly significant T1D association (p < 10), with no apparent risk conferred by DRB104:xx alleles. CONCLUSIONS: Heterogeneous forms of T1D appear more common in children and youth in Pakistan than in European populations. Individual understanding of such cases could enable improved management strategies and healthier outcomes.

摘要

巴基斯坦青年的糖尿病相关信息有限。我们旨在研究新诊断的<22 岁儿童和青少年糖尿病患者的人口统计学、临床和生化特征,以及 HLA-DRB1 等位基因。该研究于 2013 年 6 月至 2015 年 12 月在卡拉奇的 Baqai 糖尿病和内分泌学研究所进行。共纳入 100 名<22 岁的诊断患者。测量了人口统计学特征、临床信息、生化参数(血糖、HbA1c、C 肽、谷氨酸脱羧酶 65(GAD65)和胰岛抗原 2(IA-2)自身抗体)。从 100 名患者和 200 名对照中提取 DNA,使用高分辨率基因分型技术对 HLA-DRB1 进行基因分型。99 名患者被临床诊断为 1 型糖尿病(T1D),1 名患者被诊断为 2 型糖尿病(T2D)。99 例 T1D 患者中,男性 57 例(57.6%),女性 42 例(42.4%),诊断时的平均年龄为 11.0±5.2 岁(范围 1.6-21.7 岁),高峰在 6 岁和 15 岁。57 例患者在诊断后一个月内接受评估,所有患者均在 11 个月内接受评估。对于诊断为 T1D 的患者,平均 C 肽为 0.63±0.51nmol/L(1.91±1.53ng/mL),其中 16 例(16.2%)IA2 阳性,53 例(53.5%)GAD-65 阳性,10 例(10.1%)两种自身抗体均阳性。在 T1D 患者中,等位基因 DRB103:01 与 T1D 显著相关(p<10),而 DRB104:xx 等位基因似乎没有明显的风险。结论:在巴基斯坦儿童和青少年中,T1D 的表现形式比欧洲人群更为复杂。对这种情况的个体理解可以帮助制定更好的管理策略,获得更健康的结果。

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