[Genetic diagnostics in fever syndromes].

IF 1 4区 医学 Q4 RHEUMATOLOGY
Christina Gebhardt, Hendrik Schulze-Koops
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引用次数: 0

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.

[发热综合征的基因诊断]。
实验室诊断在风湿病中起着决定性的作用。除了各种自身抗体外,分子基因检测还有助于对各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)在白塞氏病的诊断中具有重要的临床意义,在单基因遗传性热综合征的诊断中检测突变也具有重要意义,例如家族性地中海热的MEVF基因。在启动基因检测时,重要的是要考虑法律基础,例如提供信息的义务以及患者的权利。此外,必须了解不同疾病的临床和流行病学特点,以便能够开展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,而不能单独具有任何诊断甚至治疗相关性。
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来源期刊
Zeitschrift fur Rheumatologie
Zeitschrift fur Rheumatologie 医学-风湿病学
CiteScore
2.20
自引率
20.00%
发文量
150
审稿时长
6-12 weeks
期刊介绍: Die Zeitschrift für Rheumatologie ist ein international angesehenes Publikationsorgan und dient der Fortbildung von niedergelassenen und in der Klinik tätigen Rheumatologen. Die Zeitschrift widmet sich allen Aspekten der klinischen Rheumatologie, der Therapie rheumatischer Erkrankungen sowie der rheumatologischen Grundlagenforschung. Umfassende Übersichtsarbeiten zu einem aktuellen Schwerpunktthema sind das Kernstück jeder Ausgabe. Im Mittelpunkt steht dabei gesichertes Wissen zu Diagnostik und Therapie mit hoher Relevanz für die tägliche Arbeit – der Leser erhält konkrete Handlungsempfehlungen. Frei eingereichte Originalien ermöglichen die Präsentation wichtiger klinischer Studien und dienen dem wissenschaftlichen Austausch.
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