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BioMed Research International
Volume 2013 (2013), Article ID 205948, 9 pages
Research Article

Urine Bikunin as a Marker of Renal Impairment in Fabry's Disease

1Dipartimento di Scienze Biomediche, University of Sassari, Via Muroni 25, 07100 Sassari, Italy
2Dipartimento di Medicina Clinica e Sperimentale, University of Sassari, Viale San Pietro 10, 07100 Sassari, Italy
3Unità Operativa di Pediatria Universitaria, Azienda Ospedaliera “Pugliese-Ciaccio”, Viale Pio X, 88100 Catanzaro, Italy

Received 22 February 2013; Revised 2 May 2013; Accepted 20 May 2013

Academic Editor: Achilleas D. Theocharis

Copyright © 2013 Antonio Junior Lepedda et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Fabry’s disease is a rare lysosomal storage disorder caused by the deficiency of α-galactosidase A that leads to the accumulation of neutral glycosphingolipids in many organs including kidney, heart, and brain. Since end-stage renal disease represents a major complication of this pathology, the aim of the present work was to evaluate if urinary proteoglycan/glycosaminoglycan excretion could represent a useful marker for monitoring kidney function in these patients at high risk. Quali-quantitative and structural analyses were conducted on plasma and urine from 24 Fabry’s patients and 43 control subjects. Patients were sorted for presence and degree of renal impairment (proteinuria/renal damage). Results showed that levels of urine bikunin, also known as urinary trypsin inhibitor (UTI), are significantly higher in patients with renal impairment than in controls. In this respect, no differences were evidenced in plasma chondroitin sulfate isomers level/structure indicating a likely direct kidney involvement. Noteworthy, urine bikunin levels are higher in patients since early symptoms of renal impairment occur (proteinuria). Overall, our findings suggest that urine bikunin level, as well as proteinuria, could represent a useful parameter for monitoring renal function in those patients that do not present any symptoms of renal insufficiency.