{"title":"[Genetic diagnostics in fever syndromes].","authors":"Christina Gebhardt, Hendrik Schulze-Koops","doi":"10.1007/s00393-025-01674-4","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":23834,"journal":{"name":"Zeitschrift fur Rheumatologie","volume":" ","pages":""},"PeriodicalIF":1.0000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zeitschrift fur Rheumatologie","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00393-025-01674-4","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"RHEUMATOLOGY","Score":null,"Total":0}
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.
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.
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