Abstract
The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an elevation in serum creatinine and the lack of validated biomarkers of early renal damage. In this regard, proteinuria is nowadays considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality. However, in this report we demonstrate that podocyturia antedates the classical appearance of proteinuria and could be considered as an even earlier biomarker of kidney damage. Podocyturia may be a novel indication for the initiation of therapy in Fabry disease.
Highlights
Fabry disease is a chromosome X-linked hereditary disease with systemic involvement, mainly affecting the cardiovascular, renal, and neurologic systems
We demonstrate the presence of increased podocyturia in a young adult with Fabry disease and the absence of proteinuria and stage I chronic kidney disease, suggesting that the detachment of damaged podocytes may precede proteinuria
As we previously outlined [10, 11], the suggested mechanisms of renal injury in Fabry disease include vascular compromise secondary to deposition of GL-3 within the arterial wall, which should be considered as a first hit, with a concomitant decrease in endotelial nitric oxide synthesis and a tendency to microthrombotic events, podocyte injury, and detachment with secondary glomerulosclerosis, and tubular atrophy and interstitial fibrosis [12]
Summary
Fabry disease is a chromosome X-linked hereditary disease with systemic involvement, mainly affecting the cardiovascular, renal, and neurologic systems. Renal involvement is progressive [1]. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs or symptoms of renal disease appear and the lack of biomarkers of early renal damage. In this regard, proteinuria is considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality and a target to be improved. We demonstrate the presence of increased podocyturia in a young adult with Fabry disease and the absence of proteinuria and stage I chronic kidney disease, suggesting that the detachment of damaged podocytes may precede proteinuria
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