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Genetische Fiebersyndrome

Periodic fever syndromes

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Zusammenfassung

Die genetischen Fiebersyndrome sind eine Reihe von systemischen Autoimmunerkrankungen mit meist episodisch auftretendem Fieber assoziiert mit zusätzlichen organspezifischen Symptomen. Innerhalb des Spektrums dieser Syndrome werden 5 Erkrankungsbilder zusammengefasst und deren unterschiedliche Vererbungsmodi und klinische Präsentation beschrieben. Gerade in den letzten Jahren konnten für die wichtigsten genetischen Fiebersyndrome wesentliche Erkenntnisse zum Mutationsnachweis und der Pathogenese dieser systemisch-entzündlichen Erkrankungen gewonnen werden. Das Therapiekonzept für die Behandlung des familiären Mittelmeerfiebers, der Kryopyrinopathien, des TNF-Rezeptor-assoziierten periodischen Fiebers ermöglicht nun erstmals eine spezifische Blockade der Entzündungskaskade dieser Erkrankungen – somit wesentliche Verbesserung in Prognose und Outcome.

Abstract

Periodic fever syndromes comprise a group of disorders characterized by attacks of seemingly unprovoked inflammation. The genetic causes of five hereditary autoinflammatory syndromes have been identified in the last few years: familial Mediterranean fever, the cryopyrinopathies [Muckle-Wells, chronic infantile neurological, cutaneous, articular syndrome (CINCA) and familial autoinflammatory syndromes], TNF-receptor associated periodic syndrome, cyclic neutropenia syndrome and periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. The study of periodic fever syndromes has progressed from clinical characterization to genetic analysis and to the definition of the functional defects linking genes or domains to apoptotic proteins and signal transduction pathways. This new research opens the way for more specific treatment options with a further improvement in prognosis and outcome.

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Authors and Affiliations

  1. Abteilung für Kinder- und Jugendheilkunde, Landeskrankenhaus Feldkirch, Feldkirch, Österreich

    M. Huemer

  2. Abteilung für Kinder- und Jugendheilkunde, Landeskrankenhaus Bregenz, Carl Pedenz Straße 2, 6900, Bregenz, Österreich

    C. Huemer

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Huemer, C., Huemer, M. Genetische Fiebersyndrome. Z. Rheumatol. 65, 595–603 (2006). https://doi.org/10.1007/s00393-006-0117-5

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  • DOI: https://doi.org/10.1007/s00393-006-0117-5

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