Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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

Referenzen:

1.

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2.

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3.

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4.

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6.

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7.

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8.

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11.

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51.

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53.

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54.

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55.

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56.

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