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Molekulargenetische Diagnostik erblicher Fiebersyndrome

Familiäres Mittelmeerfieber (FMF), Hyperimmunglobulin-D-Syndrom (HIDS), TNF-rezeptorassoziiertes periodisches Syndrom (TRAPS), Cryopyrin-assoziiertes periodisches Syndrom (CAPS: FCAS, MWS, NOMID/CINCA)

Molecular diagnostics of hereditary fever syndromes

Familial Mediterranean fever (FMF), hyperimmunoglobulin D syndrome (HIDS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS: FCAS, MWS, NOMID/CINCA)

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Zusammenfassung

Chronisch rezidivierende Episoden mit Fieber und Entzündungszeichen können auch erblich bedingt sein. Die Entdeckung der verursachenden Genvarianten ermöglicht heute in der überwiegenden Mehrzahl der Fälle die molekulargenetische Sicherung der Diagnose und bietet damit neben Ansätzen für eine spezifische medikamentöse Behandlung auch Verbesserungen bezüglich der Patientencompliance und der genetischen Beratung. Für die gezielte Gendiagnostik sind neben dem Beschwerdebild eine genaue Anamnese einschließlich Familienanamnese sowie die ethnische Abstammung wegweisend. Die Gendiagnostik selbst kann durch ein iteratives Vorgehen, welches die Wahrscheinlichkeiten des Auftretens von Mutationen in verschiedenen Genen und Genabschnitten berücksichtigt, zielstrebiger und damit auch ökonomischer durchgeführt werden.

Abstract

Periodic episodes of fever and inflammation can have a genetic origin. Nowadays, the identification of the causative genetic variants in the majority of cases allows molecular genetic confirmation of the clinical diagnosis, which enables approaches with specific drug treatment and improves patient compliance as well as genetic counseling. Besides a detailed clinical examination a medical history including family history and an assessment of the ethnic origin are required. In order to make genetic testing straightforward and cost effective an iterative procedure should be followed which should include, in addition to clinical data, the frequencies of causative mutations in the various gene segments involved.

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  1. Abteilung für Tropenmedizinische Grundlagenforschung, Bernhard-Nocht-Institut für Tropenmedizin, Berhard-Nocht-Straße 74, 20359, Hamburg, Deutschland

    C. Timmann & R. Horstmann

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  1. C. Timmann
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  2. R. Horstmann
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Correspondence to C. Timmann.

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Timmann, C., Horstmann, R. Molekulargenetische Diagnostik erblicher Fiebersyndrome. Z. Rheumatol. 68, 720–725 (2009). https://doi.org/10.1007/s00393-009-0486-7

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  • DOI: https://doi.org/10.1007/s00393-009-0486-7

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