Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Familiäres Mittelmeerfieber

Das familiäre Mittelmeerfieber ist eine hereditäre Erkrankung aus der Gruppe der Pyrin-assoziierten Erkrankungen, die durch Mutationen des MEFV-Gens (insbesondere im Exon 10) hervorgerufen wird. Die Vererbung erfolgt sowohl autosomal dominant als auch rezessiv. Insbesondere in den Fällen wo nur eine Missense-Mutation im Exon 10 gefunden werden konnte und auch keine modifizierende Mutation in den Exons 3, 5 und 8 wird auch die Beteiligung anderer Gene oder die Möglichkeit somatischer Mutationen diskutiert. Die klinischen Symptome sind rezidivierende Entzündungen seröser Häute (Pleura, Peritoneum), eine zunehmende Amyloidose und eine progressive oft terminale Niereninsuffizienz.

Einteilung

Entsprechend des klinischen Verlaufs werden zwei Typen unterschieden. Während es beim Typ 1 zu heftigen entzündlichen Reaktionen mit Serositis kommt, steht beim Typ 2 die Amyloidose im Vordergrund.

Management

Die Behandlung erfolgt mit antientzündlichen Medikamenten, wobei dem Colchizin insbesondere eine Bedeutung bei der Prophylaxe zukommt, während die NSAR in der Akutphase eingesetzt werden.

Symptome

Inflammation
Die Entzündung ist vornehmlich eine rezidivierende Serositis.

Gliederung

Pyrin-assoziierte autoinflammatorische Erkrankung
Akute febrile neutrophile Dermatosis
Familiäres Mittelmeerfieber
MEFV
SAA1
TNFRSF1A

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OMIM.ORG article

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Orphanet article

Orphanet ID 342 external link
Update: 14. August 2020
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