[Familial Mediterranean fever].
Familial Mediterranean Fever (FMF) is an hereditary disease that especially affects people living around the Mediterranean sea. It is characterized by recurring fever and abdominal pain, eventually associated with localised pleuritis, synovitis or skin inflammation. The most serious complication is amyloidosis, which can lead to terminal renal failure. The attacks and complications can be avoided by life long administration of colchicine. Two independent French and American teams discovered the gene responsible for the disease in 1997. It encodes for a protein named pyrin/marenostrin involved in the homeostasis the inflammatory mechanisms. The main mutations have been identified and are henceforth accessible for molecular screening.
Leclercq
P
P
ULg.
Hermesse
A
A
Malaise
M G
MG
D000686:Amyloidosis / Q000209:etiology* / Q000517:prevention & control*; D003078:Colchicine / Q000627:therapeutic use*; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000150:complications / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D006074:Gout Suppressants / Q000627:therapeutic use*; D006801:Humans; D015994:Incidence; D007249:Inflammation; D011506:Proteins / Q000235:genetics; D000071198:Pyrin; D051437:Renal Insufficiency
D003598:Cytoskeletal Proteins; D006074:Gout Suppressants; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin; D003078:Colchicine