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Genomic ancestry and glycemic control in adolescents with type 1 diabetes: A multicenter study in Brazil.巴西多中心研究:1 型糖尿病青少年的基因组起源与血糖控制
Pediatr Diabetes. 2020 Aug;21(5):727-734. doi: 10.1111/pedi.13031. Epub 2020 May 7.
2
HLA class II genotyping of admixed Brazilian patients with type 1 diabetes according to self-reported color/race in a nationwide study.根据全国性研究中自我报告的肤色/种族对 1 型糖尿病混合巴西患者的 HLA Ⅱ类基因分型。
Sci Rep. 2020 Apr 20;10(1):6628. doi: 10.1038/s41598-020-63322-y.
3
Multiorgan involvement and management in children with Down syndrome.唐氏综合征患儿的多器官受累及管理
Acta Paediatr. 2020 Jun;109(6):1096-1111. doi: 10.1111/apa.15153. Epub 2020 Jan 24.
4
ISPAD Clinical Practice Consensus Guidelines 2018: Definition, epidemiology, and classification of diabetes in children and adolescents.《国际儿童青少年糖尿病研究学会(ISPAD)2018年临床实践共识指南:儿童和青少年糖尿病的定义、流行病学及分类》
Pediatr Diabetes. 2018 Oct;19 Suppl 27(Suppl 27):7-19. doi: 10.1111/pedi.12773.
5
Occurrence of Hypothyroidism, Diabetes Mellitus, and Celiac Disease in Emirati Children with Down's Syndrome.阿联酋唐氏综合征患儿甲状腺功能减退症、糖尿病和乳糜泻的发生率
Oman Med J. 2018 Sep;33(5):387-392. doi: 10.5001/omj.2018.72.
6
Type 1 diabetes.1 型糖尿病。
Lancet. 2018 Jun 16;391(10138):2449-2462. doi: 10.1016/S0140-6736(18)31320-5.
7
A plateau in new onset type 1 diabetes: Incidence of pediatric diabetes in the United States Military Health System.新诊断 1 型糖尿病的平台期:美国军事卫生系统的儿科糖尿病发病率。
Pediatr Diabetes. 2018 Aug;19(5):917-922. doi: 10.1111/pedi.12659. Epub 2018 Mar 8.
8
Endocrine Autoimmunity in Down's Syndrome.唐氏综合征中的内分泌自身免疫
Front Horm Res. 2017;48:133-146. doi: 10.1159/000452912. Epub 2017 Feb 28.
9
Early-onset, coexisting autoimmunity and decreased HLA-mediated susceptibility are the characteristics of diabetes in Down syndrome.唐氏综合征患者的糖尿病具有早发、共存自身免疫和 HLA 介导的易感性降低的特点。
Diabetes Care. 2013 May;36(5):1181-5. doi: 10.2337/dc12-1712. Epub 2012 Dec 28.
10
Diabetes mellitus in children and adolescents with genetic syndromes.患有遗传综合征的儿童和青少年中的糖尿病
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混合人群中唐氏综合征儿童和青少年 1 型糖尿病的特征。

Characteristics of type 1 diabetes mellitus in children and adolescents with Down's syndrome in an admixed population.

机构信息

Serviço de Endocrinologia Pediátrica, Departamento de Pediatria, Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brasil.

Departamento de Pediatria, Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brasil.

出版信息

Arch Endocrinol Metab. 2021 Oct 29;65(5):562-569. doi: 10.20945/2359-3997000000365. Epub 2021 Apr 29.

DOI:10.20945/2359-3997000000365
PMID:33939908
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10528579/
Abstract

OBJECTIVE

People with Down's syndrome (DS) have a higher risk of developing type 1 diabetes mellitus (T1D) and may have specific clinical features compared to T1D patients without DS. This study evaluated the clinical and laboratory aspects of T1D in children and adolescents with DS in an admixed population.

METHODS

A case-control study comparing patients with T1D and DS (T1D+DS) to patients with T1D without DS (T1D controls) from two tertiary academic Hospitals in São Paulo, Brazil.

RESULTS

The sample consisted of 9 patients with T1D+DS and 18 T1D age and sex-matched controls. Anti-glutamic acid decarboxylase 65 antibodies were positive in 7/7 of the 9 T1D+DS patients, confirming the presence of diabetes autoimmunity in this group. Mean age at diagnosis of T1D was 4.9 ± 3.9 years in the T1D+DS group and 6.4 years ± 3 in the T1D control group; early diagnosis (<2 years old) occurred in three T1D+DS patients but only in one T1D control patients, both suggesting lower age of diagnosis in T1D+DS group, although without statistical significance (p = 0.282 and p = 0.093, respectively). The T1D+DS group presented lower total insulin dose (0.7 IU/kg/day ± 0.2) and HbA1c (7.2% ± 0.6) than the control group (1.0 IU/kg/day ± 0.3 and 9.1% ± 0.7, respectively) (p = 0.022 and p = 0.047, respectively).

CONCLUSION

We confirmed the autoimmune etiology of diabetes in people with DS in this admixed population. T1D+DS patients developed diabetes earlier and achieved better metabolic control with a lower insulin dose than T1D controls. These findings are in agreement with previous studies in Caucasian populations.

摘要

目的

唐氏综合征(DS)患者患 1 型糖尿病(T1D)的风险较高,并且与无 DS 的 T1D 患者相比,可能具有特定的临床特征。本研究评估了混合人群中 DS 儿童和青少年 T1D 的临床和实验室特征。

方法

这是一项病例对照研究,将巴西圣保罗的两家三级学术医院的 T1D+DS 患者与 T1D 无 DS 患者(T1D 对照组)进行比较。

结果

样本包括 9 名 T1D+DS 患者和 18 名年龄和性别匹配的 T1D 对照组患者。7/7 的 T1D+DS 患者抗谷氨酸脱羧酶 65 抗体阳性,证实该组存在糖尿病自身免疫。T1D+DS 组的 T1D 诊断平均年龄为 4.9 ± 3.9 岁,T1D 对照组为 6.4 ± 3 岁;3 名 T1D+DS 患者在 2 岁以下被诊断为 T1D,但只有 1 名 T1D 对照组患者在该年龄被诊断为 T1D,这表明 T1D+DS 组的诊断年龄较低,但无统计学意义(p = 0.282 和 p = 0.093)。T1D+DS 组的总胰岛素剂量(0.7IU/kg/天±0.2)和 HbA1c(7.2%±0.6)均低于对照组(1.0IU/kg/天±0.3 和 9.1%±0.7)(p = 0.022 和 p = 0.047)。

结论

我们在混合人群中证实了 DS 患者糖尿病的自身免疫病因。T1D+DS 患者比 T1D 对照组更早发生糖尿病,且胰岛素剂量更低,代谢控制更好。这些发现与之前在白种人群中的研究一致。