RESUMO

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.

Assuntos

Doença de Fabry , Insuficiência Renal Crônica , Masculino , Humanos , Doença de Fabry/complicações , Doença de Fabry/diagnóstico , Doença de Fabry/genética , Argentina/epidemiologia , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/epidemiologia , Programas de Rastreamento , Linhagem , alfa-Galactosidase