TITLE

Klinik der autoinflammatorischen Erkrankungen im Kindesalter

AUTHOR(S)
I. Foeldvari; J. Kümmerle- Deschner
PUB. DATE
November 2009
SOURCE
Zeitschrift für Rheumatologie;Nov2009, Vol. 68 Issue 9, p726
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
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.
ACCESSION #
45121715

 

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