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

MARTIN, CHOUA; PABLO, NEUMANN; PEDRO, QUIETO; PAULA, ROZENFELD; BRUNO, LOCOCO; MANUEL, ABASCAL JUAN; JORGE, ABDALA; ALEJANDRA, AGUERRE MARIA; ARTURO, ARIAS; OSCAR, ALVAREZ; WALTER, BONFANTI; DENNIS, BUENO; MONICA, CALVO; CARLOS, CASAS; RAUL, CEJAS; DANIEL, D?ERRICO; CARLOS, ESPECHE JUAN; CARLOS, FERNANDEZ JUAN; PABLO, FERNANDEZ; SEGUNDO, FERNANDEZ; ROLANDO, FEULI; CARLOS, FRAGUEIRO; LAURA, GIL; MARIA, GINI; CARLOS, GUTIERREZ; ANIBAL, GASTALDI; CARLOS, LARA; SILVINA, LIZIARDI; LIDIA, LLUDGAR MARIA; SILVIA, MATTAUSCH; ALICIA, MARINI; ALFONSO, MARTINEZ; NORA, MARCHETTA; SANDRA, MENDEZ; JOSE, MORENO; ADRIANA, PETROS; SILVINA, PRIORI; ROQUE, QUERCI; ROSA, RAMIREZ MARIA; NICOLAS, RICOBELLI; BEATRIZ, SEGOVIA; JAVIER, SENA; CRISTINA, STEPANENKO; LUIS, URTIAGA; VANESA, VAZQUEZ

JN. JOURNAL OF NEPHROLOGY

WICHTIG EDITORE

Año: 2022 vol. 35 p. 2437 - 2440

1121-8428

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.