title: Urine bikunin as a marker of renal impairment in Fabry's disease.
abstract: 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.
authors.affiliation: Dipartimento di Scienze Biomediche, University of Sassari, Via Muroni 25, 07100 Sassari, Italy. ajlepedda@uniss.it
authors.forename: Antonio Junior
authors.initials: AJ
authors.lastname: Lepedda
authors.forename: Laura
authors.initials: L
authors.lastname: Fancellu
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Zinellu
authors.forename: Pierina
authors.initials: P
authors.lastname: De Muro
authors.forename: Gabriele
authors.initials: G
authors.lastname: Nieddu
authors.forename: Giovanni Andrea
authors.initials: GA
authors.lastname: Deiana
authors.forename: Piera
authors.initials: P
authors.lastname: Canu
authors.forename: Daniela
authors.initials: D
authors.lastname: Concolino
authors.forename: Simona
authors.initials: S
authors.lastname: Sestito
authors.forename: Marilena
authors.initials: M
authors.lastname: Formato
authors.forename: Gianpietro
authors.initials: G
authors.lastname: Sechi
mesh_terms: D000328:Adult; D000510:Alpha-Globulins / Q000652:urine*; D015415:Biomarkers / Q000652:urine; D000795:Fabry Disease / Q000150:complications / Q000473:pathology / Q000652:urine*; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D011507:Proteinuria / Q000175:diagnosis; D051437:Renal Insufficiency / Q000150:complications / Q000652:urine*; D000519:alpha-Galactosidase / Q000235:genetics / Q000378:metabolism
chemical_list: D000510:Alpha-Globulins; D015415:Biomarkers; C016001:alpha-1-microglobulin; D000519:alpha-Galactosidase