Frequency of Fabry disease in male and female haemodialysis patients in Spain
Data(s) |
22/03/2012
22/03/2012
2010
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Resumo |
BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme alpha-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females. However, heterozygous females usually present a milder phenotype with a later onset and a slower progression. METHODS: A combined enzymatic and genetic strategy was used, measuring the activity of alpha-galactosidase A and genotyping the alpha-galactosidase A gene (GLA) in dried blood samples (DBS) of 911 patients undergoing haemodialysis in centers across Spain. RESULTS: 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. CONCLUSIONS: 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. This study was partially sponsored by Shire Plc |
Identificador |
Gaspar P, Herrera J, Rodrigues D, Cerezo S, Delgado R, Andrade CF, et al. Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Med Genet.[Internet]. 2010;11:19. 1471-2350 (Online) http://hdl.handle.net/10668/369 20122163 10.1186/1471-2350-11-19 |
Idioma(s) |
en |
Publicador |
BioMed Central |
Relação |
BMC medical genetics http://www.biomedcentral.com/1471-2350/11/19/abstract |
Direitos |
Acceso abierto |
Palavras-Chave | #Alelos #Amino Acid Substitution #Genotipo #Heterocigoto #Mediana Edad #Mutación #Fenotipo #Diálisis Renal #alfa-Galactosidasa #España #Femenino #Masculino #Adulto #Anciano de 80 o más años #Humanos #Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles #Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Amino Acid Substitution #Medical Subject Headings::Diseases::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Lysosomal Storage Diseases, Nervous System::Sphingolipidoses::Fabry Disease #Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype #Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Heterozygote #Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged #Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation #Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype #Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Renal Replacement Therapy::Renal Dialysis #Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Glycoside Hydrolases::Galactosidases::alpha-Galactosidase #Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain #Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Aged::Aged, 80 and over #Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans |
Tipo |
info:eu-repo/semantics/article info:eu-repo/semantics/submitted Artículo |