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Klinik der autoinflammatorischen Erkrankungen im Kindesalter

Autoinflammatory diseases in childhood

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Zusammenfassung

Autoinflammatorische Erkrankungen (AI) stellen eine Gruppe monogenetischer entzündlicher Erkrankungen dar, die durch frühkindlichen Beginn charakterisiert werden. Diese Erkrankungen hat man früher als „periodische Fiebersyndrome“ bezeichnet. Es werden zu diesen AI einerseits das familiäre Mittelmeerfieber, die Mevalonatkinasedefizienz (Hyper-IgD-Syndrom) und das „Tumornekrosefaktor-rezeptorassoziierte Syndrom“ (TRAPS) gezählt. Diese werden durch periodische oder rezidivierende Schübe von systemischer Entzündungsaktivität mit einhergehendem Fieber häufig mit Ausschlag, Serositis, Lymphadenopathie, Arthritis und anderen klinischen Manifestationen assoziiert. Die andere große Gruppe der AI stellt CAPS (Cryopyrin-assoziertes periodisches Syndrom) dar. Dieses umfasst ein Spektrum von chronischen autoinflammtorischen Erkrankungen (Cryopyrinopathien). Die mildeste Form ist die familiäre Kälteurtikaria (FCAS, „familial cold associated syndrome“), beeinträchtigender das Muckle-Wells-Syndrom (MWS) und die schwerste Form ist das „neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome“ (NOMID/CINCA). Diese werden durch chronische oder rezidivierende systemische Entzündung mit verschiedenen klinischen Erscheinungen gekennzeichnet, wie urtikariaartiger Ausschlag, Arthritis, sensoneuronaler Hörverlust und Beteiligung des Zentralnervensystems und des Knochensystems. In unserer Übersichtsarbeit werden wir uns auf die klinische Präsentation dieser Erkrankungen konzentrieren.

Abstract

Autoinflammatory diseases are a group of monogenic inflammatory diseases with an early onset in childhood. Previously these diseases were summarized as“periodic fever syndromes.” Included in this spectrum are familial Mediterranean fever, mevalonate kinase deficiency, and tumor necrosis factor receptor-associated disease. They are characterized by periodic or recurrent episodes of systemic inflammation causing fever, accompanied by rash, serositis, lymphadenopathy, arthritis, and other clinical manifestations. The other large group of autoinflammatory diseases consists of the cryopyrin-associated periodic syndromes, which include the cryopyrinopathies. The mildest form is familial cold-associated syndrome, a more severe form is Muckle–Wells syndrome, and the most severe is neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome. These are characterized by chronic or recurrent systemic inflammation associated with various clinical presentations, including urticaria-like rash, arthritis, sensorineural deafness, and central nervous system and bone involvement. In our review we focus on the clinical presentation of these diseases.

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  1. Hamburger Zentrum für Kinder- und Jugendrheumatologie, Kompetenz-Zentrum für Sklerodermie im Kindesalter, Kompetenz Zentrum für autoimmune Uveitis im Kindesalter, Am Klinikum Eilbek, Dehnhaide 120, 22081, Hamburg, Deutschland

    I. Foeldvari

  2. Abteilung für Kinderrheumatologie , Universitätskinderklinik, Tübingen, Deutschland

    J. Kümmerle- Deschner

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Correspondence to I. Foeldvari .

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Foeldvari , I., Kümmerle- Deschner, J. Klinik der autoinflammatorischen Erkrankungen im Kindesalter. Z. Rheumatol. 68, 726–732 (2009). https://doi.org/10.1007/s00393-009-0487-6

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