Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Cryopyrin-assoziiertes periodisches Fieber-Syndrom

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.

Einteilung

In der Gruppe des Cryopyrin-assoziierten periodischen Fiebers lassen sich folgende Phänotypen abgrenzen:

  1. Das familiäre kälteinduzierte autoinflammatorische Syndrom 1, welches die mildeste Verlaufsform mit meist nur periodischen Hautrötungen darstellt.
  2. Das Muckle-Wells-Syndrom, für welches die Entwicklung einer renalen Amyloidose und einer Schwerhörigkeit typisch sind.
  3. Das CINCA-Syndrom, welches vor allem durch die Beiteiligung des Zentralnervensystems auffällt.

Management

Mit der Therapie einer Antagonisierung der Interleukin-1-Wirkung können nicht nur erfolgreich akute Schübe behandelt sondern auch Spätfolgen abgewendet werden.

Gliederung

Chronisch entzündliche Störungen
Cryopyrin-assoziiertes periodisches Fieber-Syndrom
CINCA-Syndrom
NLRP3
Familiäres kälteinduziertes autoinflammatorisches Syndrom 1
NLRP3
Muckle-Wells-Syndrom
NLRP3
Familiäres Mittelmeerfieber
Mevalonat-Kinase assoziierte entzündliche Erkrankungen
Neigung zu maligner Hyperthermie 5
TNF-Rezeptor-assoziiertes periodisches Fieber-Syndrom
Veranlagung für entzündliche Darmerkrankungen

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