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一名患有NEUROD1变异的青少年在COVID-19感染期间诊断糖尿病时短暂性胰岛抗原2阳性:病例报告

Transient islet-antigen 2 positivity at diagnosis of diabetes during COVID-19 infection in an adolescent with a NEUROD1 variant: a case report.

作者信息

Yee Jennifer K, Anand Seerat, Sanabria Juan C, Mao Catherine S

机构信息

Division of Endocrinology, Department of Pediatrics, Harbor-UCLA Medical Center, 1000 W. Carson St., Harbor Box 446, Torrance, CA, 90509, USA.

The Lundquist Institute of Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.

出版信息

J Med Case Rep. 2025 Jun 5;19(1):266. doi: 10.1186/s13256-025-05327-7.

Abstract

BACKGROUND

Increased incidence of type 1 and type 2 diabetes has been reported in association with the coronavirus disease 2019 pandemic. Little is known about the impact of coronavirus disease 2019 on the presentation of monogenic forms of diabetes. This case report describes diagnosis of the uncommon maturity onset diabetes of the young (neurogenic differentiation factor 1-maturity-onset diabetes of the young) after transient autoimmunity during coronavirus disease 2019 infection.

CASE PRESENTATION

A 19-year-old Mexican male with autism spectrum disorder was diagnosed with diabetes without ketoacidosis during metabolic screening laboratory testing. He tested positive for coronavirus disease 2019 with no respiratory symptoms. His hemoglobin A1c was 14.2%, and had elevated islet-antigen 2 antibody. His blood glucose responded rapidly to initial dietary reduction in carbohydrate intake without insulin initiation, with subsequent improvement in hemoglobin A1c to 7.4% 2 months later. Then, 2 years after diagnosis, his hemoglobin A1c was 6.0%, and repeat antibody testing was negative. He was taking lisinopril for microalbuminuria, but required no medications for glucose control. Genetic testing identified a variant of NEUROD1 c.514C > T, p.(Leu172Phe). His mother who was subsequently diagnosed with diabetes, underwent targeted variant testing and was found to have the same neurogenic differentiation factor 1 variant.

CONCLUSIONS

Coronavirus disease 2019 possibly triggered transient autoimmunity, leading to the diagnosis of neurogenic differentiation factor 1-maturity-onset diabetes of the young diabetes. This is also the first description of the clinical features associated with this particular neurogenic differentiation factor 1 variant.

摘要

背景

据报道,1型和2型糖尿病的发病率增加与2019冠状病毒病大流行有关。关于2019冠状病毒病对单基因糖尿病表现的影响知之甚少。本病例报告描述了一名19岁墨西哥男性在2019冠状病毒病感染期间出现短暂自身免疫后,被诊断为罕见的青年成熟期糖尿病(神经源性分化因子1-青年成熟期糖尿病)。

病例介绍

一名患有自闭症谱系障碍的19岁墨西哥男性在代谢筛查实验室检测中被诊断为无酮症酸中毒的糖尿病。他的2019冠状病毒病检测呈阳性,但无呼吸道症状。他的糖化血红蛋白为14.2%,胰岛抗原2抗体升高。在未开始使用胰岛素的情况下,他的血糖对最初减少碳水化合物摄入的饮食迅速做出反应,2个月后糖化血红蛋白随后改善至7.4%。然后,在诊断2年后,他的糖化血红蛋白为6.0%,重复抗体检测为阴性。他因微量白蛋白尿服用赖诺普利,但无需药物控制血糖。基因检测发现NEUROD1基因c.514C>T,p.(Leu172Phe)变异。他随后被诊断患有糖尿病的母亲接受了靶向变异检测,发现具有相同的神经源性分化因子1变异。

结论

2019冠状病毒病可能引发了短暂的自身免疫,导致神经源性分化因子1-青年成熟期糖尿病的诊断。这也是与这种特定神经源性分化因子1变异相关的临床特征的首次描述。

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J Clin Res Pediatr Endocrinol. 2024 May 31;16(2):218-223. doi: 10.4274/jcrpe.galenos.2022.2022-6-15. Epub 2022 Sep 1.

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