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

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...

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Bibliographic Details
Published in:BioMed research international 2013, Vol.2013 (2013), p.1-9
Main Authors: Formato, Marilena, Sechi, Gianpietro, Sestito, Simona, Canu, Piera, Deiana, Giovanni Andrea, Nieddu, Gabriele, De Muro, Pierina, Zinellu, Elisabetta, Fancellu, Laura, Lepedda, Antonio Junior, Concolino, Daniela
Format: Article
Language:English
Subjects:
Adult
alpha-Galactosidase - genetics
alpha-Galactosidase - metabolism
Alpha-Globulins - urine
Bikunin
Biological markers
Biomarkers
Biomarkers - urine
Biomedical research
Chronic kidney failure
Complications and side effects
Diagnosis
Enzymes
Fabry Disease - complications
Fabry Disease - pathology
Fabry Disease - urine
Fabry's disease
Female
Heparan sulfate
Humans
Kidney - pathology
Male
Middle Aged
Mortality
Mutation
Pathogenesis
Pathology
Physiological aspects
Plasma
Protease inhibitors
Proteinuria - diagnosis
Renal Insufficiency - complications
Renal Insufficiency - urine
Risk factors
Rodents
Studies
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Summary: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.
ISSN:2314-6133
2314-6141
DOI:10.1155/2013/205948