Artículo
Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages
Asociación de Estudios y Difusión de las Enfermedades Lisosomales y Fabry en la Argentina; Martin, Choua; Pablo, Neumann; Pedro, Quieto; Rozenfeld, Paula Adriana
Fecha de publicación:
12/2022
Editorial:
Wichtig Editore
Revista:
Jn. Journal Of Nephrology
ISSN:
1121-8428
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
Archivos asociados
Licencia
Identificadores
Colecciones
Articulos(IIFP)
Articulos de INST. DE ESTUDIOS INMUNOLOGICOS Y FISIOPATOLOGICOS
Articulos de INST. DE ESTUDIOS INMUNOLOGICOS Y FISIOPATOLOGICOS
Citación
Asociación de Estudios y Difusión de las Enfermedades Lisosomales y Fabry en la Argentina; Martin, Choua; Pablo, Neumann; Pedro, Quieto; Rozenfeld, Paula Adriana; Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages; Wichtig Editore; Jn. Journal Of Nephrology; 35; 9; 12-2022; 2437-2440
Compartir
Altmétricas