Mineral Metabolism & the Kidney | Methods for Diagnostic & Therapeutic Studies | Hereditary, Genetic & Developmental Aspects of Nephrology
Fabry’s kidney: 8 years follow up in a South American hospital
Amelia R Bernasconi*, Lautaro Albarracin, Andres A Liste, Juan Manuel Politei, Ricardo M Heguilen
*Corresponding author: Amelia R Bernasconi
Department of Medicine, Hospital J.A. Fernandez, Buenos Aires, Argentina
F1000Posters 2011, 2: 938 (poster) [ENGLISH]
Poster [352.49 KB]
Presented at
48th Congress of the European Renal Association and European Dialysis and Transplant Association 2011,
23 - 26 Jun 2011, F-032
Fabry disease (FD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the αgalactosidase A (αgal A). Although diagnosis is often delayed or missed, progressive renal failure with proteinuria and the need for dialysis or transplantation are prominent features.
Enzyme replacement therapy (ERT) in all males with Fabry disease (including those with end-stage renal disease) and female carriers with substantial disease manifestations should be initiated as early as possible. As urinary protein excretion is strongly associated with renal disease progression in men and women with FD, we report the clinical and renal outcome of 21 FD patients receiving ERT who were followed up for a period of up to 8 years.
Regression models of the eGFR slope indicated that UP/Cr is the most important indicator of renal disease progression in adult Fabry patients. ERT is the only disease-specific therapy currently available for Fabry disease and is safe as it can reverse substrate storage in the lysosome, the pathophysiologic basis of the disease.
Intravenous infusions of Agalsidase are safe and effective in preserving renal function in FD patients.
No relevant conflicts of interest declared.
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