Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort.

Fabry disease (FD) is a multisystem lysosomal storage disorder induced by genetic variants in the alpha-galactosidase A (GalA) gene. Some FD patients have GLA variants with a reduction in overall GalA enzymatic activity due to mutated proteins with reduced stability, caused by protein misfolding and premature degradation, but the GalA catalytic activity remains conserved ("amenable" genetic variants). To correct this misfolding and to prevent premature degradation, migalastat, a small iminosugar molecule was developed.

Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.

Introduction: Nephropathy is one of the major complications of Fabry disease and mainly includes reduced glomerular filtration rate and proteinuria. Affected patients show different degrees of annual loss of renal function according to the magnitude of proteinuria and decrease in estimated glomerular filtration rate (eGFR) at the baseline.

Objetive: To analyze the relationship between age at diagnosis and severity of nephropathy in a Fabry disease population.