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Autoinflammation – Unterschiede bei Kindern und Erwachsenen

Autoinflammation—differences between children and adults

Zusammenfassung

Autoinflammatorische Erkrankungen präsentieren sich als multisystemische Entzündungen und werden häufig bereits im frühen Kindesalter manifest. Bei wenigen Erkrankungen, wie z. B. dem kürzlich beschriebenen VEXAS-Syndrom (Vakuolen, E1-Enzym, X‑chromosomal, autoinflammatorisch, somatisch) treten die ersten Krankheitssymptome dagegen ausschließlich im Erwachsenenalter auf. Dieser Beitrag beschreibt, inwiefern sich die phänotypische Ausprägung und Schwere einzelner autoinflammatorischer Erkrankungen in Abhängigkeit vom Lebensalter unterscheiden. Zudem werden altersabhängige Differenzen in der Ausbildung von vorliegenden Organschäden aufgezeigt. Neben den hereditären periodischen Fiebersyndromen werden auch das Krankheitsbild der Adenosindesaminase-2-Defizienz, die Interferonopathien, das PFAPA-Syndrom mit periodischem Fieber, aphthöser Stomatitis, Pharyngitis und zervikaler Adenitis sowie das VEXAS- und das Schnitzler-Syndrom beleuchtet.

Abstract

Autoinflammatory diseases present as multisystemic inflammation and often manifest in early childhood. In contrast, in a few diseases, e.g., the recently described VEXAS (vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) syndrome, the first symptoms occur exclusively in adulthood. This article describes how the phenotypic expression and severity of individual autoinflammatory diseases differ depending on age. Furthermore, differences in the development of organ damage in children and adults are pointed out. In addition to the hereditary periodic fever syndromes, the clinical picture of deficiency of adenosine deaminase 2, the interferonopathies, periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome as well as VEXAS and Schnitzler syndromes are highlighted.

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Correspondence to Tilmann Kallinich.

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Krusche, M., Kallinich, T. Autoinflammation – Unterschiede bei Kindern und Erwachsenen. Z Rheumatol (2021). https://doi.org/10.1007/s00393-021-01115-y

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Schlüsselwörter

  • Familiäres Mittelmeerfiber
  • PFAPA-Syndrom
  • VEXAS-Syndrom
  • Interferonopathien
  • Mevalonatkinasedefizienz

Keywords

  • Familial mediterranean fever
  • PFAPA syndrome
  • VEXAS syndrome
  • Interferonopathies
  • Mevalonate kinase deficiency