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抗谷氨酸脱羧酶抗体阴性、抗胰岛抗原2抗体阳性的缓慢进展性胰岛素依赖型糖尿病及格雷夫斯病,之前有儿童期起病的微小病变型肾病综合征:一例报告

Anti-GAD antibody-negative, anti-IA2 antibody-positive slowly progressive insulin-dependent diabetes mellitus and Graves' disease preceded by childhood-onset minimal change nephrotic syndrome: a case report.

作者信息

Kodama Yoshimi, Okabe Taijiro, Sasaki Shuji, Yokomizo Hisashi, Sakamoto Ryuichi, Niimi Kazuhiko, Ogawa Yoshihiro

机构信息

Fukuoka Central Hospital, 6-11-2 Yakuin, Chuou-ku, Fukuoka, 810-0022 Japan.

Fukuoka Sanno Hospital, 3-6-45 Momochihama, Sawara-ku, Fukuoka, 814-0001 Japan.

出版信息

Diabetol Int. 2025 Jan 13;16(2):421-426. doi: 10.1007/s13340-024-00787-6. eCollection 2025 Apr.

Abstract

It is rare for a patient to have minimal change nephrotic syndrome, slowly progressive insulin-dependent diabetes mellitus, and Graves' disease in combination. In this case, a patient developed idiopathic nephrotic syndrome at the age of 11 years. She was diagnosed with frequently relapsing nephrotic syndrome and steroid-dependent nephrotic syndrome after repeated increases in urinary protein levels with prednisolone reduction. At the age of 14 years, steroid-induced diabetes was suspected because she was negative for anti-glutamic acid decarboxylase (GAD) antibody, and her glycemic control improved after medication. At the age of 16 years, her nephrotic syndrome was in remission, but even after discontinuation of cyclosporine, her glycemic control did not improve. Decreased insulin secretion and positive anti-insulinoma-associated protein-2 (IA2) antibody were found, and therefore she was diagnosed as having slowly progressive insulin-dependent diabetes mellitus (SPIDDM). Although her glycemic control was stable with insulin therapy, she was diagnosed with asymptomatic Graves' disease at the age of 28 years and started treatment. Human leukocyte antigen testing (HLA) was performed to evaluate the etiology of the disease, which revealed A02:01, B35:01, DQA103:01, DQB103:02, DQB104:01, DRB104:05, DRB108:02, and DPB105:01, suggesting genetic involvement of HLA for each disease susceptibility.

摘要

一名患者同时患有微小病变型肾病综合征、缓慢进展的胰岛素依赖型糖尿病和格雷夫斯病的情况较为罕见。在该病例中,一名患者11岁时患上特发性肾病综合征。在使用泼尼松龙减量后尿蛋白水平反复升高,她被诊断为频繁复发型肾病综合征和激素依赖型肾病综合征。14岁时,由于她抗谷氨酸脱羧酶(GAD)抗体呈阴性,怀疑是类固醇诱导的糖尿病,用药后血糖控制得到改善。16岁时,她的肾病综合征缓解,但即使停用环孢素后,血糖控制仍未改善。发现胰岛素分泌减少且抗胰岛瘤相关蛋白-2(IA2)抗体呈阳性,因此她被诊断为缓慢进展的胰岛素依赖型糖尿病(SPIDDM)。尽管胰岛素治疗使她的血糖控制稳定,但她28岁时被诊断为无症状格雷夫斯病并开始治疗。进行了人类白细胞抗原检测(HLA)以评估疾病病因,结果显示为A02:01、B35:01、DQA103:01、DQB103:02、DQB104:01、DRB104:05、DRB108:02和DPB105:01,提示HLA基因参与了每种疾病的易感性。

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本文引用的文献

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Autoantibodies Targeting Nephrin in Podocytopathies.足细胞病相关的 Nephrin 自身抗体
N Engl J Med. 2024 Aug 1;391(5):422-433. doi: 10.1056/NEJMoa2314471. Epub 2024 May 25.
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Anti-Islet Autoantibodies in Type 1 Diabetes.1 型糖尿病中的胰岛自身抗体。
Int J Mol Sci. 2023 Jun 11;24(12):10012. doi: 10.3390/ijms241210012.
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Molecular Mechanisms of Proteinuria in Minimal Change Disease.微小病变性肾病蛋白尿的分子机制
Front Med (Lausanne). 2021 Dec 23;8:761600. doi: 10.3389/fmed.2021.761600. eCollection 2021.

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