Differenzialdiagnostik intermittierender Fieberschübe im Kindesalter

Zusammenfassung

Fiebersyndrome und autoinflammatorische Erkrankungen sind eine Gruppe von erblichen und nicht-erblichen Erkrankungen des angeborenen Immunsystems, gekennzeichnet durch wiederkehrende Entzündungen, scheinbar grundlos, in regelmäßigen oder unregelmäßigen Zeitabständen und Manifestationen an Haut, Schleimhäuten, Gelenken, Knochen, Magen-Darm-Trakt aber auch Gefäßen und ZNS. Amyloidose und andere mögliche schwere langfristige Komplikationen sind von Bedeutung. Fortschritte in der Genetik und Molekularbiologie haben das Verständnis der Pathogenese dieser Erkrankungen verbessert. Pathogenetisch sind unterschiedliche Entzündungswege, wie Interleukin-1-, Interferon-, NF-Kappa-B-vermittelte oder andere Wege bedeutsam. Der Zweck dieser Darstellung ist es nicht nur das Bewusstsein für die mittlerweile zahlreichen autoinflammatorischen Syndrome zu stärken, sondern auch differentialdiagnostisch Wege aufzuzeigen. Die finale Diagnose wird im Zeitalter der Genetik sicher häufig genetisch verifiziert, doch gibt die Klinik wichtige Hinweise auf die wahrscheinliche Diagnose. Leitsymptom ist das wiederkehrende Fieber, doch kann dies bei zahlreichen autoinflammatorischen Syndromen fehlen. Haut- und Schleimhautmanifestationen, psoriatiforme und pustulöse, sowie Urtikaria, eine Livedo oder Knoten können wegweisend sein.

Abstract

Fever syndromes and autoinflammatory diseases are a group of hereditary and non-hereditary disorders of the innate immune system, characterised by recurrent inflammation, apparently groundless, occurring at regular or irregular intervals and manifesting themselves on the skin and mucous membranes, in the joints, bones, gastrointestinal tract, vessels, and the CNS. Amyloidosis and other potential long-term complications have to be considered. Advances in genetics and molecular biology have improved the understanding of the pathogenesis of these diseases. Pathogenetically, different inflammatory pathways are important, e. g. interleukin-1, interferon, NF-Kappa-B-mediated or other pathways. The purpose of this presentation is not only to increase awareness of the numerous autoinflammatory syndromes, but also to show differential diagnostic pathways. In the age of genetics, the final diagnosis is often verified genetically. However, the clinical presentation provides important indications of the probable diagnosis. The main symptom is recurrent fever, but this may be absent in numerous autoinflammatory syndromes. Skin and mucosal manifestations, psoriatic and pustular, as well as urticaria, livedo or nodules may lead the way to the correct diagnosis.

Schlüsselwörter

Fiebersyndrome - Autoinflammation - Amyloidose

Key words

recurrent fever - autoinflammation - amyloidosis

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