Prevalence of renal damage previous to the diagnosis of Fabry disease in Argentina

Abstract

Kidney damage is one of the major complications of Fabry disease and its clinical presentation is proteinuria and a progressive decrease in glomerular filtration rate. The frequency of renal damage prior to the diagnosis of Fabry disease has been reported in the order of 8.7% for men with "classic" Fabry disease, 3% for men with "non-classic" Fabry disease, 1.4% for women with “classic” Fabry disease and 0.7% in women with “non-classic” Fabry disease, in patients from Germany, the United Kingdom and the Netherlands, with no information on this in our country to date. Objective: To evaluate the frequency of kidney damage prior to the diagnosis of Fabry disease in Argentina. Material and methods: Cross-sectional epidemiological study conducted in three centers in Argentina. Results: Data from the first consultation of 72 patients with Fabry disease were included; 44 (61.1%) patients had kidney damage prior to diagnosis. The independent variables that correlated with statistical significance to “previous kidney damage” were age (p=<0.001), genotype (p=0.009) and being diagnosed in adulthood (p=<0.001). No correlation was found between previous kidney damage and the following independent variables: gender (p=0.421), being an “index case” (p=0.139), type of variant (classic/late) of Fabry disease (p=0.107) and the enzymatic activity of the lysosomal enzyme α-galactosidase-A (p=0.916). Conclusions: Kidney damage frequently occurs prior to diagnosis in patients affected by Fabry disease. In the presence of manifest nephropathy due to a drop in the estimated glomerular filtration enfermedad de Fabry or proteinuria of unknown cause, Fabry disease should be considered as a differential diagnosis in patients of both genders, both pediatric and adult.