Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease

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Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.contributorUniversidade Federal do Paraná (UFPR)-
Autor(es): dc.contributorUniversidade de São Paulo (USP)-
Autor(es): dc.contributorClirenal-
Autor(es): dc.contributorInstituto de Medicina Integral Professor Fernando Figueira-
Autor(es): dc.contributorMetta Saúde Clínica do Rim-
Autor(es): dc.contributorUniversidade Federal do Rio Grande do Norte - UFRN-
Autor(es): dc.contributorUniversidade Federal do Amazonas - UFAM-
Autor(es): dc.contributorGrupo Instituto do Rim do Paraná-
Autor(es): dc.contributorUniversidade Federal de Goiás (UFG)-
Autor(es): dc.contributorFundação Pro-Rim-
Autor(es): dc.contributorSanta Casa de Misericórdia de Itabuna-
Autor(es): dc.contributorRenal Quality-
Autor(es): dc.contributorSanta Casa de Maringá-
Autor(es): dc.contributorCentro de Nefrologia de Nova Friburgo-
Autor(es): dc.contributorMedical Affairs–Rare Disease-
Autor(es): dc.contributorUniversidade Federal do Rio de Janeiro (UFRJ)-
Autor(es): dc.creatorSilva, Cassiano Augusto Braga-
Autor(es): dc.creatorde Carvalho Barreto, Fellype-
Autor(es): dc.creatorNeto, Osvaldo Merege Vieira-
Autor(es): dc.creatorLucca, Leandro Junior-
Autor(es): dc.creatorVieira, Fernando A.-
Autor(es): dc.creatorGueiros, Ana Paula Santana-
Autor(es): dc.creatorBoger, Marta V.-
Autor(es): dc.creatorSilva, Artur Quintiliano-
Autor(es): dc.creatorGuedes, Felipe Leite-
Autor(es): dc.creatorIsrael, Karla Cristina P.-
Autor(es): dc.creatorGordon, Gina Elizabeth Moreno-
Autor(es): dc.creatorVeloso, Valeria S.P.-
Autor(es): dc.creatorSevignani, Gabriela-
Autor(es): dc.creatorBarretto, Carolina Teles-
Autor(es): dc.creatorRosa, Maria Gabriela-
Autor(es): dc.creatorPascotto, Roberta C.-
Autor(es): dc.creatorEnnes, Gelzie S.-
Autor(es): dc.creatorda Silva Montenegro Malaguti Souza, Eduarda Morgana-
Autor(es): dc.creatorRibeiro, Marcia Goncalves-
Autor(es): dc.creatorde Andrade, Luis Gustavo Modelli-
Data de aceite: dc.date.accessioned2025-08-21T22:17:35Z-
Data de disponibilização: dc.date.available2025-08-21T22:17:35Z-
Data de envio: dc.date.issued2025-04-29-
Data de envio: dc.date.issued2024-09-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1016/j.ymgme.2024.108565-
Fonte completa do material: dc.identifierhttps://hdl.handle.net/11449/306846-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/306846-
Descrição: dc.descriptionIntroduction: The spectrum of clinical presentation of Fabry disease (FD) in women is broad and challenging. The aim is to evaluate the effectiveness of an alternative screening method for FD in women. Methods: A collaborative multicenter cross-sectional study to evaluate the sensitivity and specificity of the combination of two tests (α-GAL enzyme activity assay and lyso-GL3 assay) for the diagnosis of FD in women. We included women with chronic kidney disease (CKD) stages 3 to 5, receiving conservative treatment or on dialysis programs, from different nephrology services in Brazil. Results: We evaluated 1874 patients that underwent blood collection for α-GAL and lyso-GL3 assays. Isolated decreased α-GAL enzyme activity was found in 64 patients (3.5%), while isolated increased lyso-GL3 levels were found in 67 patients (3.6%), with one patient presenting alterations in both tests. All cases with low α-GAL enzyme activity and/or increased lyso-GL3 levels underwent genetic analysis for FD variants (132 performed GLA genetic test). Low α-GAL enzyme activity had higher sensitivity and specificity to detect FD compared to the other measures (elevated lyso-GL3 alone or both altered). The negative predictive value (NPV) of α-GAL activity was 99%, and the positive predictive value (PPV) was 9.2%. For lyso-GL3 assay, the specificity was 99.7% and the PPV was 2.9%, therefore considered inferior to α-GAL assay. Both assays altered, had higher PPV (100%) and higher NPV (99.7%) considered the best method. We found 7 cases of GLA gene variants found, resulting in an initial prevalence of 0.37% for FD in this sample female population. Conclusion: This study contributes to the diagnostic value of the biomarkers α-GAL and lyso-GL3 in the context of FD in women with CKD. The combination of these biomarkers was an effective approach for the diagnosis of the disease, with high PPV and NPV.-
Descrição: dc.descriptionSanofi-
Descrição: dc.descriptionDepartment of Internal Medicine - UNESP Univ Estadual Paulista-
Descrição: dc.descriptionUniversidade Federal do Paraná – UFPR-
Descrição: dc.descriptionUniversidade de São Paulo - USP, SP-
Descrição: dc.descriptionClirenal, MG-
Descrição: dc.descriptionInstituto de Medicina Integral Professor Fernando Figueira, PE-
Descrição: dc.descriptionMetta Saúde Clínica do Rim, PR-
Descrição: dc.descriptionUniversidade Federal do Rio Grande do Norte - UFRN, RN-
Descrição: dc.descriptionUniversidade Federal do Amazonas - UFAM, AM-
Descrição: dc.descriptionGrupo Instituto do Rim do Paraná, PR-
Descrição: dc.descriptionUniversidade Federal de Goiás - UFGO, GO-
Descrição: dc.descriptionFundação Pro-Rim, SC-
Descrição: dc.descriptionSanta Casa de Misericórdia de Itabuna, BA-
Descrição: dc.descriptionRenal Quality, SP-
Descrição: dc.descriptionSanta Casa de Maringá, PR-
Descrição: dc.descriptionCentro de Nefrologia de Nova Friburgo, RJ-
Descrição: dc.descriptionSanofi Medical Affairs–Rare Disease, SP-
Descrição: dc.descriptionUniversidade Federal do Rio de Janeiro - UFRJ, RJ-
Descrição: dc.descriptionDepartment of Internal Medicine - UNESP Univ Estadual Paulista-
Idioma: dc.languageen-
Relação: dc.relationMolecular Genetics and Metabolism-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectBiomarkers-
Palavras-chave: dc.subjectEnzyme α-galactosidase A-
Palavras-chave: dc.subjectFabry disease-
Palavras-chave: dc.subjectFD diagnosis-
Palavras-chave: dc.subjectLyso-GL-3-
Título: dc.titleAssessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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