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Kinder- und Jugendmedizin 2011; 11(06): 349-357
DOI: 10.1055/s-0038-1629166
Genetik
Schattauer GmbH

Cryopyrin-assoziierte periodische Syndrome

Prototypen autoinflammatorischer ErkrankungenCryopyrin-associated periodic syndromesPrototypes of autoinflammatory disorders
K. Krause
1   Allergie-Centrum-Charité, Klinik für Dermatologie, Venerologie und Allergologie, Charité – Universitätsmedizin Berlin
,
E. Feist
2   Medizinische Klink mit Schwerpunkt Rheumatologie und klinische Immunologie, Charité – Universitätsmedizin Berlin
,
M. Maurer
1   Allergie-Centrum-Charité, Klinik für Dermatologie, Venerologie und Allergologie, Charité – Universitätsmedizin Berlin
,
T. Kallinich
3   Klinik für Pädiatrie mit Schwerpunkt Pneumologie und Immunologie, Charité – Universitätsmedizin Berlin
› Author Affiliations
Further Information

Publication History

Eingereicht am:06 September 2011

angenommen am:05 October 2011

Publication Date:
31 January 2018 (online)

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Zusammenfassung

Autoinflammatorische Erkrankungen zeichnen sich durch abnorme systemische Entzündungsreaktionen aus, die vorwiegend durch Störungen des angeborenen Immunsystems vermittelt werden. Als Prototypen dieser Erkrankungen gelten die seltenen Cryopyrin-assoziierten periodischen Syndrome (CAPS), denen ursächlich eine Mutation des NLRP3-Gens mit konsekutiver Aktivierung von Interleukin-1β (IL-1β) zugrunde liegt. Die drei Vertreter dieser Gruppe, die multisystemische entzündliche Erkrankung mit Beginn im Neugeborenenalter (NOMID/CINCA), das Muckle-Wells-Syndrom (MWS) und das familiäre autoinflammatorische Kältesyndrom (FCAS) sind durch rezidivierende Fieberschübe und Entzündungsreaktionen an verschiedenen Organen, u. a. charakteristische urtikarielle Exantheme, gekennzeichnet. Die Diagnose CAPS wird anhand des klinischen Bildes, der Familienanamnese und Mutationsanalyse sowie unter Abgrenzung weiterer dermatologischer und rheumatologischer Krankheitsbilder gestellt. Therapeutisch kommen IL-1β-Antagonisten zum Einsatz, die bei allen drei Entitäten eine sehr gute Wirksamkeit und Verträglichkeit zeigen.

Summary

Autoinflammatory diseases are characterized by abnormal systemic inflammatory responses primarily mediated by a dysfunction of the innate immunity. Disease prototypes are the rare cryopyrin-associated periodic syndromes (CAPS), which are caused by mutations of the NLRP3 gene leading to subsequent interleukin-1β activation. CAPS consist of the neonatal onset multi-system inflammatory disease (NOMID/CINCA), Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS). Clinical symptoms are recurrent episodes of fever and inflammatory reactions of various organs, including urticarial skin rashes. The diagnosis of CAPS is made on the basis of clinical presentation, family history, mutation analysis and by separation from other dermatologic and rheumatologic disorders. The treatment of choice is the use of IL-1β antagonists, which have been shown to be very effective and well tolerated in all three subgroups.

Schlüsselwörter

CAPS - NOMID/CINCA - MWS - FCAS - Auto-inflammation - Interleukin-1β

Keywords

CAPS - NOMID/CINCA - MWS - FCAS - autoinflammation - interleukin-1β
 

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