Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

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dc.contributor.authorYalin, Serkan Feyyaz
dc.contributor.authorEren, Necmi
dc.contributor.authorSinangil, Ayse
dc.contributor.authorYilmaz, Vural Taner
dc.contributor.authorTatar, Erhan
dc.contributor.authorUcarf, Ali Riza
dc.contributor.authorSevinc, Mustafa
dc.date.accessioned2024-02-23T14:26:40Z
dc.date.available2024-02-23T14:26:40Z
dc.date.issued2019
dc.departmentNEÜen_US
dc.description.abstractBackground: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes. Objective: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. Methods: All Tx and dialysis patients were screened regardless of the presence of a primary disease. We measured the AGALA activity in all male patients as initial analysis. Mutation analysis was performed in male patients with decreased AGALA activity and in female patients as the initial diagnostic assay. Results: We screened 5,657 patients. A total of 17 mutations were identified. No significant difference was observed between the groups regarding the prevalence of patients with mutation. We found FD even in patients with presumed primary kidney diseases. Seventy-one relatives were analyzed and mutation was detected in 43 of them. We detected a patient with a new, unknown mutation (p.Cys223) in the GLA gene. Conclusions: There are important implications of the screening. First, detection of the undiagnosed patients leads to starting appropriate therapies for these patients. Second, the transmission of the disease to future generations may be prevented by prenatal screening after appropriate genetic counseling. In conclusion, we suggest screening of kidney Tx candidates for FD, regardless of etiologies of chronic kidney disease. (C) 2019 S. Karger AG, Baselen_US
dc.identifier.doi10.1159/000496620
dc.identifier.endpage33en_US
dc.identifier.issn1660-8151
dc.identifier.issn2235-3186
dc.identifier.issue1en_US
dc.identifier.pmid30739116en_US
dc.identifier.scopus2-s2.0-85061668582en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage26en_US
dc.identifier.urihttps://doi.org/10.1159/000496620
dc.identifier.urihttps://hdl.handle.net/20.500.12452/14281
dc.identifier.volume142en_US
dc.identifier.wosWOS:000467679300004en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofNephronen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAlpha-Galactosidase Aen_US
dc.subjectFabry Diseaseen_US
dc.subjectFamily Screeningen_US
dc.subjectIndex Caseen_US
dc.subjectRenal Transplant Recipienten_US
dc.titleFabry Disease Prevalence in Renal Replacement Therapy in Turkeyen_US
dc.typeArticleen_US

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