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Erschienen in: Zeitschrift für Rheumatologie 6/2016

13.07.2016 | Arthritis | Leitthema: Meilensteine in der Rheumatologie: 75 Bände Innovation

Autoinflammatorische Syndrome

Praktisches Vorgehen in Diagnose und Therapie

verfasst von: Prof. Dr. J. B. Kümmerle-Deschner

Erschienen in: Zeitschrift für Rheumatologie | Ausgabe 6/2016

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Auszug

Ein 81-jähriger Patient leidet seit seiner Jugend an kälteinduziertem Urtikaria-ähnlichem Ausschlag, Arthralgien, Arthritis, Skleritis und Konjunktivitis, einhergehend mit erhöhten Entzündungsparametern (BSG, CRP). In der Kindheit waren die schubweise auftretenden Episoden mit Fieber assoziiert. Er und weitere 15 betroffene Familienmitglieder wurden über Jahrzehnte wegen der Augensymptome ophthalmologisch behandelt. Nachdem bei seiner Enkelin CAPS diagnostiziert wird, gelingt auch bei ihm der Nachweis einer krankheitsverursachenden Mutation im NLRP3-Gen. Unter Interleukin-1-Inhibition ist er erstmals in seinem Leben beschwerdefrei. Zitat: „I ben um mei Läbe b’schissa worda!“ („Ich wurde um mein Leben betrogen!“) …
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Metadaten
Titel
Autoinflammatorische Syndrome
Praktisches Vorgehen in Diagnose und Therapie
verfasst von
Prof. Dr. J. B. Kümmerle-Deschner
Publikationsdatum
13.07.2016
Verlag
Springer Berlin Heidelberg
Erschienen in
Zeitschrift für Rheumatologie / Ausgabe 6/2016
Print ISSN: 0340-1855
Elektronische ISSN: 1435-1250
DOI
https://doi.org/10.1007/s00393-016-0158-3

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