Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages.
J Nephrol
; 35(9): 2437-2440, 2022 12.
Article
em En
| MEDLINE
| ID: mdl-35972684
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Fabry
/
Insuficiência Renal Crônica
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Humans
/
Male
País/Região como assunto:
America do sul
/
Argentina
Idioma:
En
Revista:
J Nephrol
Assunto da revista:
NEFROLOGIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Argentina
País de publicação:
Itália