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[相同抗体,新问题:一名72岁脑炎女性患者的跨学科诊断]

[Same antibodies, new questions: interdisciplinary diagnosis in a 72-year-old female patient with encephalitis].

作者信息

Kellner Christiane, Ceanga Mihai, Leicht Jakob, Kühnel Christian, Piramoon Mina, Kloos Christof, Müller Nicolle, Wolf Gunter

机构信息

Klinik für Innere Medizin III, FB Endokrinologie und Stoffwechselerkrankungen, Universitätsklinikum Jena, Am Klinikum 1, 07747, Jena, Deutschland.

Klinik für Neurologie, Universitätsklinikum Jena, Jena, Deutschland.

出版信息

Inn Med (Heidelb). 2025 Jun 16. doi: 10.1007/s00108-025-01919-z.

DOI:10.1007/s00108-025-01919-z
PMID:40522473
Abstract

At 1.5 years after the diagnosis of glutamate decarboxylase(GAD)-associated encephalitis (highly positive GAD antibodies in cerebrospinal fluid and serum) in a 72-year-old patient, hyperglycemia above 40 mmol/l was the cause of progressive neurological symptoms. GAD is an important enzyme in the central nervous system and pancreatic β‑cells that convert L‑glutamate into γ‑aminobutyric acid (GABA). High GAD antibodies are associated with autoimmune diseases such as encephalitis and diabetes mellitus type 1, requiring interdisciplinary diagnostics and therapy.

摘要

一名72岁患者被诊断为谷氨酸脱羧酶(GAD)相关脑炎(脑脊液和血清中GAD抗体高度阳性)1.5年后,血糖高于40 mmol/l是其进行性神经症状的病因。GAD是中枢神经系统和胰腺β细胞中的一种重要酶,可将L-谷氨酸转化为γ-氨基丁酸(GABA)。高GAD抗体与脑炎和1型糖尿病等自身免疫性疾病有关,需要多学科诊断和治疗。

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Looking back at the TEDDY study: lessons and future directions.回顾TEDDY研究:经验教训与未来方向。
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GAD65 autoimmunity-clinical studies.谷氨酸脱羧酶65自身免疫性——临床研究
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GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop.谷氨酸脱羧酶产生γ-氨基丁酸受一个动态催化环调控。
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Higher autoantibody levels and recognition of a linear NH2-terminal epitope in the autoantigen GAD65, distinguish stiff-man syndrome from insulin-dependent diabetes mellitus.自身抗体水平升高以及在自身抗原谷氨酸脱羧酶65(GAD65)中对线性氨基末端表位的识别,可将僵人综合征与胰岛素依赖型糖尿病区分开来。
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6
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Two genes encode distinct glutamate decarboxylases.两种基因编码不同的谷氨酸脱羧酶。
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