Das Syndrom des Cryopyrin-assoziierten periodischen Fiebers ist eine Gruppe von autosomal dominanten Erkrankungen, die durch Mutationen im Cryopyrin (NLRP3) hervorgerufen werden. Die verschiedenen Erkrankungen entsprechen allelischen Varianten und zeigen zum Teil überlappende klinische Merkmale. Gemeinsam sind allen Erkrankungen die von Fieber begleiteten Entzündungsschübe die zu einer Amyloidose der Niere führen können. Etwa 30% der Erkrankungen werden durch somatische Mutationen ausgelöst.
In der Gruppe des Cryopyrin-assoziierten periodischen Fiebers lassen sich folgende Phänotypen abgrenzen:
Mit der Therapie einer Antagonisierung der Interleukin-1-Wirkung können nicht nur erfolgreich akute Schübe behandelt sondern auch Spätfolgen abgewendet werden.
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Orphanet article Orphanet ID 208650 |