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2022, Number 3

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Rev Nefrol Dial Traspl 2022; 42 (3)

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

Jaurretche S, Antongiovanni N, Perretta F

Language: Spanish
References: 38
Page: 215-224
PDF size: 586.67 Kb.


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 rate or proteinuria of unknown cause, Fabry disease should be considered as a differential diagnosis in patients of both genders, both pediatric and adult.


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