Abstract: FR-PO672
Assessment of Combined α-Galactosidase (α-GAL) Enzyme Activity and Lyso-GL3 for Fabry Disease Screening in Women
Session Information
- Genetic Kidney Diseases: Cohort Studies - Genetic Associations and Diagnoses
October 25, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Silva, Cassiano Augusto Braga, Universidade Estadual Paulista Julio de Mesquita Filho, Botucatu, São Paulo, Brazil
- Barreto, Fellype, Universidade Federal do Parana, Curitiba, PR, Brazil
- Vieira Neto, Osvaldo Merege, Universidade de Sao Paulo Faculdade de Medicina de Ribeirao Preto, Ribeirao Preto, Brazil
- Lucca, Leandro Jr., Universidade de Sao Paulo Faculdade de Medicina de Ribeirao Preto, Ribeirao Preto, Brazil
- Vieira, Fernando Antonio Freitas, Clirenal, Caratinga, MG, Brazil
- Gueiros, Ana Paula, Instituto de Medicina Integral Professor Fernando Figueira, Recife, Brazil
- Boger, Marta Vaz Dias de Souza, Metta Saúde Clínica do Rim, Foz do Iguaçu, PR, Brazil
- Silva, Artur Quintiliano, Universidade Federal do Rio Grande do Norte, Natal, Brazil
- Guedes, Felipe Leite, Universidade Federal do Rio Grande do Norte, Natal, Brazil
- Israel, Karla Cristina Petruccelli, Universidade Federal do Amazonas, Manaus, Brazil
- Moreno Gordon, Gina, Grupo Instituto do Rim do Paraná, Curitiba, PR, Aruba
- Veloso, Valeria, Universidade Federal de Goias, Goiania, GO, Brazil
- Sevignani, Gabriela, Fundação Pro-Rim, Joinville, SC, Brazil
- Barretto, Carolina, Santa Casa de Misericórdia de Itabuna, Itabuna, BA, Brazil
- Pascotto, Roberta Correa, Santa Casa de Maringa, Maringa, Brazil
- Ennes, Gelzie Sorrentino, Centro de Nefrologia de Nova Friburgo, Nova Friburgo, Rj, Brazil
- Souza, Eduarda M S M M, Universidade de Sao Paulo, Sao Paulo, Brazil
- Ribeiro, Márcia G., Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil
- Modelli de Andrade, Luis Gustavo, Universidade Estadual Paulista Julio de Mesquita Filho, Botucatu, São Paulo, Brazil
Background
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 and lyso-GL3) for the diagnosis of FD in women. We included women with CKD stages 3 to 5, receiving conservative treatment or on dialysis programs.
Results
We evaluated 1,874 patients. Isolated decreased α-GAL activity was found in 64 patients, while isolated increased lyso-GL3 levels were found in 67 patients, with one patient presenting alterations in both tests. All cases with low α-GAL activity and/or increased lyso-GL3 levels underwent genetic analysis for FD variants (132 patients). Low α-GAL 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, resulting in an prevalence of 0.37% for FD in this sample female population.
Conclusion
This study contributes to the diagnostic value of this biomarkers in the context of FD in women with CKD. The combination of these biomarkers was an effective approach for the diagnosis, with high PPV and NPV.
The relationship between α-GAL and lyso-GL3 levels and the presence of Fabry disease.