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Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages

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Abstract

We report three patients diagnosed with Fabry disease through a screening study which included individuals suffering from chronic kidney disease (CKD) at any stage. The study recruited 1740 male patients, and three Fabry patients were diagnosed, resulting in a frequency of 0.17%. The analysis by CKD stage group revealed frequencies of 3.03%, 0.77% and 0.17%, in CKD1, CKD3 and CKD5, respectively. Pedigree analysis was carried out for these families, with a high ratio index: pedigree (1:16). This study underlines the importance of considering Fabry disease in the differential diagnosis at every stage of CKD, including the early ones, and stresses the possibility of finding patients with late onset phenotypes.

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Acknowledgements

Argentine renal group on Fabry disease: Choua Martin: AADELFA, La Plata, Argentina, Neumann Pablo: Servicio de Nefrología, Ipensa, La Plata, Argentina, Quieto Pedro: AADELFA, La Plata, Argentina, Lococo Bruno: AADELFA, La Plata, Argentina, Abascal Juan Manuel: AADELFA, La Plata, Argentina, Abdala Jorge: AADELFA, La Plata, Argentina, Aguerre Maria Alejandra: AADELFA, La Plata, Argentina, Arias Arturo: AADELFA, La Plata, Argentina, Alvarez Oscar: AADELFA, La Plata, Argentina, Bonfanti Walter: AADELFA, La Plata, Argentina, Bueno Dennis: AADELFA, La Plata, Argentina, Calvo Monica: AADELFA, La Plata, Argentina, Casas Carlos: AADELFA, La Plata, Argentina, Cejas Raul: AADELFA, La Plata, Argentina, D´errico Daniel: AADELFA, La Plata, Argentina, Espeche Juan Carlos: AADELFA, La Plata, Argentina, Fernandez Juan Carlos: AADELFA, La Plata, Argentina, Fernandez Pablo: AADELFA, La Plata, Argentina, Fernandez Segundo: AADELFA, La Plata, Argentina, Feuli Rolando: AADELFA, La Plata, Argentina, Fragueiro Carlos: AADELFA, La Plata, Argentina; Gil Laura: AADELFA, La Plata, Argentina, Gini Maria: AADELFA, La Plata, Argentina, Gutierrez Carlos: AADELFA, La Plata, Argentina, Gastaldi Anibal: AADELFA, La Plata, Argentina, Lara Carlos: AADELFA, La Plata, Argentina, Liziardi Silvina: AADELFA, La Plata, Argentina, Lludgar Maria Lidia: AADELFA, La Plata, Argentina, Mattausch Silvia: AADELFA, La Plata, Argentina, Marini Alicia: AADELFA, La Plata, Argentina, Martinez Alfonso: AADELFA, La Plata, Argentina, Marchetta Nora: AADELFA, La Plata, Argentina, Mendez Sandra: AADELFA, La Plata, Argentina, Moreno Jose: AADELFA, La Plata, Argentina, Petros Adriana: AADELFA, La Plata, Argentina, Priori Silvina: AADELFA, La Plata, Argentina, Querci Roque: AADELFA, La Plata, Argentina, Ramirez Maria Rosa: AADELFA, La Plata, Argentina, Ricobelli Nicolas: AADELFA, La Plata, Argentina, Segovia Beatriz: AADELFA, La Plata, Argentina, Sena Javier: AADELFA, La Plata, Argentina, Stepanenko Cristina: AADELFA, La Plata, Argentina, Urtiaga Luis: AADELFA, La Plata, Argentina, Vazquez Vanesa: AADELFA, La Plata, Argentina, Rozenfeld Paula: AADELFA, La Plata, Argentina, Instituto de Estudios Inmunológicos y Fisiopatológicos (IIFP), UNLP, CONICET, asociado CIC PBA, Facultad de Ciencias Exactas, Departamento de Ciencias Biológicas, La Plata, Argentina

Funding

This project was funded by AADELFA (Asociación de estudios y difusion de las Enfermedades lisosomales en Argentina).

Author information

Authors and Affiliations

  1. AADELFA, La Plata, Argentina

    Choua Martin, Quieto Pedro & Rozenfeld Paula

  2. Servicio de Nefrología, Ipensa, La Plata, Argentina

    Neumann Pablo

  3. Departamento de Ciencias Biológicas, Instituto de Estudios Inmunológicos y Fisiopatológicos (IIFP), UNLP, CONICET, asociado CIC PBA, Facultad de Ciencias Exactas, La Plata, Argentina

    Rozenfeld Paula

Authors
  1. Choua Martin
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  2. Neumann Pablo
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  3. Quieto Pedro
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  4. Rozenfeld Paula
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Consortia

the Argentine renal group on Fabry disease

  • Choua Martin
  • , Neumann Pablo
  • , Quieto Pedro
  • , Lococo Bruno
  • , Abascal Juan Manuel
  • , Abdala Jorge
  • , Aguerre Maria Alejandra
  • , Arias Arturo
  • , Alvarez Oscar
  • , Bonfanti Walter
  • , Bueno Dennis
  • , Calvo Monica
  • , Casas Carlos
  • , Cejas Raul
  • , D’errico Daniel
  • , Espeche Juan Carlos
  • , Fernandez Juan Carlos
  • , Fernandez Pablo
  • , Fernandez Segundo
  • , Feuli Rolando
  • , Fragueiro Carlos
  • , Gil Laura
  • , Gini Maria
  • , Gutierrez Carlos
  • , Gastaldi Anibal
  • , Lara Carlos
  • , Liziardi Silvina
  • , Lludgar Maria Lidia
  • , Mattausch Silvia
  • , Marini Alicia
  • , Martinez Alfonso
  • , Marchetta Nora
  • , Mendez Sandra
  • , Moreno Jose
  • , Petros Adriana
  • , Priori Silvina
  • , Querci Roque
  • , Ramirez Maria Rosa
  • , Ricobelli Nicolas
  • , Segovia Beatriz
  • , Sena Javier
  • , Stepanenko Cristina
  • , Urtiaga Luis
  • , Vazquez Vanesa
  •  & Rozenfeld Paula

Corresponding author

Correspondence to Rozenfeld Paula.

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Conflict of interest

Consultancies: P Rozenfeld (Takeda, Amicus), P Quieto (Takeda), M Choua, (Takeda), P Neumann (Takeda). Grants received: P Rozenfeld (Takeda, Amicus).

Ethical statement

The study was performed in compliance with the Declaration of Helsinki and the local GCP guidelines for research in human subjects (resolution 1480/11 from the Ministry of Health in Argentina), all the subjects provided written informed consent that has been approved by the Institutional Review Board/Independent Ethics Committee (IRB/IEC).

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The members of the Argentine renal group on Fabry disease are mentioned in “Acknowledgement” section.

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Martin, C., Pablo, N., Pedro, Q. et al. Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages. J Nephrol 35, 2437–2440 (2022). https://doi.org/10.1007/s40620-022-01405-x

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  • DOI: https://doi.org/10.1007/s40620-022-01405-x

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