Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients.
We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. No mutation frequency, including that of M694V, was different between the two groups. Family history of amyloidosis and parental consanguinity were noted to be higher in the amyloidosis group. The seven mutations do not appear to be sufficient to explain the development of amyloidosis in Turkish FMF patients. Other genetic factors may be important for this association.
Yalçinkaya
F
F
Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey. yalcinkaya@tr-net.net.tr
Tekin
M
M
Cakar
N
N
Akar
E
E
Akar
N
N
Tümer
N
N
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000686:Amyloidosis / Q000209:etiology / Q000235:genetics*; D016022:Case-Control Studies; D003078:Colchicine / Q000627:therapeutic use; D003241:Consanguinity; D010505:Familial Mediterranean Fever / Q000150:complications / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006074:Gout Suppressants / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014421:Turkey / Q000208:ethnology
D006074:Gout Suppressants; D003078:Colchicine