{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:17Z","timestamp":1761717977776,"version":"3.40.4"},"reference-count":27,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Nephrol"],"published-print":{"date-parts":[[2005]]},"abstract":"<i>Background\/Aims:<\/i> Evaluation of the risk factors, and phenotype-genotype correlation of familial Mediterranean fever (FMF) gene (MEFV) and serum amyloid A1 (SAA1) gene polymorphisms in renal amyloidosis. <i>Methods:<\/i> We investigated MEFV and SAA1 genotypes (\u03b1, \u03b2, and \u03b3 isoforms) in 50 FMF patients and 50 healthy children. Tel-Hashomer criteria were used for the diagnosis and severity scoring of FMF. <i>Results:<\/i> The most common MEFV mutation and SAA1 genotype were M694V\/M694V (n = 26\/50) and SAA1 \u03b1\/\u03b1 (n = 26\/50), respectively. Positive family history for amyloidosis was significantly higher (p < 0.001) with more severe clinical course (p = 0.006) in the amyloidosis group than the non-amyloid group. In M694V\/M694V mutation, erysipelas-like skin erythema (p = 0.029), arthritis (p = 0.004), arthralgia (p < 0.001) were significantly more frequent with higher severity scores (p = 0.008) than the patients with other mutations. Comparison of the SAA1 \u03b1\/\u03b1 genotype with other genotypes revealed more frequent arthritis (p = 0.003) in the SAA1 \u03b1\/\u03b1 genotype. In amyloidosis group patients having both M694V\/M694V and SAA1 \u03b1\/\u03b1 genotypes were the largest subgroup (n = 14, p < 0.001). Logistic regression analysis for amyloidosis corrected risk revealed a 1.2 times increase in M694V\/M694V, a 2.4 times increase in SAA1 \u03b1\/\u03b1 genotypes and a 2.5 times increase when both are together. <i>Conclusion:<\/i> Positive family history for amyloidosis and presence of SAA1 \u03b1\/\u03b1 genotype in M694V\/M694V mutation may predispose to amyloidosis by increasing the clinical severity. Therefore, in such children early colchicine treatment might be recommended even if they are asymptomatic.<\/jats:p>","DOI":"10.1159\/000087824","type":"journal-article","created":{"date-parts":[[2005,8,24]],"date-time":"2005-08-24T09:55:16Z","timestamp":1124877316000},"page":"434-440","source":"Crossref","is-referenced-by-count":24,"title":["Genetic Risk Factors of Amyloidogenesis in Familial Mediterranean 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