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

Familiäres Mittelmeerfieber

Das familiäre Mittelmeerfieber ist eine hereditäre Erkrankung, die durch Mutationen des MEFV-Gens hervorgerufen wird. Die Vererbung erfolgt sowohl autosomal dominant als auch rezessiv. 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

Hereditäre Amyloidose
ATTR-Amyloidose
Amyloidose vom Finnischen Typ
Cryopyrin-assoziiertes periodisches Fieber-Syndrom
Familiäres Mittelmeerfieber
MEFV
NOD2
SAA1
TNFRSF1A
Nierenamyloidose
Zerebroarterielle Amyloidose

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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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