Suppr超能文献

[发热综合征的基因诊断]

[Genetic diagnostics in fever syndromes].

作者信息

Gebhardt Christina, Schulze-Koops Hendrik

机构信息

Sektion Rheumatologie & Klinische Immunologie, LMU Klinikum München, Pettenkoferstr. 8a, 80336, München, Deutschland.

出版信息

Z Rheumatol. 2025 Aug;84(6):462-470. doi: 10.1007/s00393-025-01674-4. Epub 2025 Jul 1.

Abstract

Laboratory diagnostics play a decisive role in rheumatology. In addition to various autoantibodies, molecular genetic tests also help to classify a wide range of symptom complexes and ultimately to make a diagnosis. Histocompatibility genes, such as HLA-B51 are clinically important in the context of Behcet's disease, as is the detection of mutations in the diagnosis of monogenic hereditary fever syndromes, e.g. in the MEVF gene in familial Mediterranean fever. When initiating genetic testing, it is important to consider the legal basis, such as the obligation to provide information as well as patients' rights. In addition, it is necessary to be aware of the clinical and epidemiological characteristics of the different diseases in order to be able to initiate diagnostics that are as targeted as possible. As with antibody diagnostics, genetic tests in rheumatology must always be interpreted in the clinical context and never have any diagnostic or even therapeutic relevance on their own.

摘要

实验室诊断在风湿病学中起着决定性作用。除了各种自身抗体外,分子遗传学检测也有助于对多种症状复合体进行分类,并最终做出诊断。组织相容性基因,如HLA - B51,在白塞病的背景下具有临床重要性,单基因遗传性发热综合征诊断中的突变检测也是如此,例如家族性地中海热中的MEVF基因。在启动基因检测时,重要的是要考虑法律依据,如提供信息的义务以及患者的权利。此外,有必要了解不同疾病的临床和流行病学特征,以便能够启动尽可能有针对性的诊断。与抗体诊断一样,风湿病学中的基因检测必须始终在临床背景下进行解释,其本身绝没有任何诊断甚至治疗意义。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验