%0 Journal Article
%T Frequency of Fabry disease in male and female haemodialysis patients in Spain
%A Paulo Gaspar
%A Julio Herrera
%A Daniel Rodrigues
%A Sebasti¨¢n Cerezo
%A Rodrigo Delgado
%A Carlos F Andrade
%A Ram¨®n Forascepi
%A Juan Macias
%A Maria D del Pino
%A Maria D Prados
%A Pilar R de Alegria
%A Gerardo Torres
%A Pedro Vidau
%A Maria C S¨¢-Miranda
%J BMC Medical Genetics
%D 2010
%I BioMed Central
%R 10.1186/1471-2350-11-19
%X A combined enzymatic and genetic strategy was used, measuring the activity of ¦Á-galactosidase A and genotyping the ¦Á-galactosidase A gene (GLA) in dried blood samples (DBS) of 911 patients undergoing haemodialysis in centers across Spain.GLA alterations were found in seven unrelated patients (4 males and 3 females). Two novel mutations (p.Gly346AlafsX347 and p.Val199GlyfsX203) were identified as well as a previously described mutation, R118C. The R118C mutation was present in 60% of unrelated patients with GLA causal mutations. The D313Y alteration, considered by some authors as a pseudo-deficiency allele, was also found in two out of seven patients.Excluding the controversial D313Y alteration, FD presents a frequency of one in 182 individuals (0.55%) within this population of males and females undergoing haemodialysis. Moreover, our findings suggest that a number of patients with unexplained and atypical symptoms of renal disease may have FD. Screening programmes for FD in populations of individuals presenting severe kidney dysfunction, cardiac alterations or cerebrovascular disease may lead to the diagnosis of FD in those patients, the study of their families and eventually the implementation of a specific therapy.Fabry disease (MIM 301500) is an X-linked lysosomal storage disorder resulting from mutations in the ¦Á-galactosidase A gene (GLA), leading to a reduction in the activity of the lysosomal enzyme ¦Á-galactosidase A (¦Á-Gal A) [1]. This enzyme defect generates progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids, primarily in the vascular endothelium leading to renal failure, cardiac and cerebrovascular disease [1,2].In general, males with a deficient activity of ¦Á-Gal A exhibit the classical FD phenotype with angiokeratomas, acroparesthesias, hypohidrosis, and corneal and lenticular opacities, with onset occurring in childhood. Heterozygous females usually present a milder phenotype, showing a slower progression. However the
%U http://www.biomedcentral.com/1471-2350/11/19