Ilona Bányász1, Géza Bokodi1, Barna Vásárhelyi2, András Treszl1, László Derzbach1, András Szabó1, Tivadar Tulassay1,2,3, Ádám Vannay3
European Cytokine Network, Vol.17, No.4, pp. 271-275, 2006, DOI:10.1684/ecn.2006.0043
Abstract Background. Fabry disease is an X-linked disorder associated with early-onset stroke, cardiomyopathy, and progression to end-stage renal failure. Correlations between inflammatory cytokines have been shown in other lysosomal storage diseases. The aim of the study was to evaluate functional gene polymorphisms of key pro- and anti-inflammatory cytokines and to correlate them to a clinical score to assess the potential role of inflammation in Fabry disease. Design. Genotyping for IL-10[819C/T; -592C/A]; IL-1β[+3954C/T; –511C/T]; IL-1α[-889C/T]; and TNF-α[-308G/A] was performed in 76 patients and correlated with MSSI sub-scores and with enzyme (alpha-galactosidase A) levels. Fifty, normal, age- and… More >