Research Article
Urine Bikunin as a Marker of Renal Impairment in Fabry's Disease
Table 1
Clinical and genetic features of Fabry’s patients.
| Patient | Age | Gender | Renal involvement | GLA mutations | α-galactosidase A (nmol/mL/h)* | ERT |
| 1 | 59 | F | RD | Cys172Tyr | 1.70 | Y | 2 | 26 | F | RD | Cys172Tyr | 4.68 | Y | 3 | 30 | M | NRD | Cys172Tyr | 3.70 | Y | 4 | 38 | M | NRD | Cys172Tyr | 5.30 | Y | 5 | 33 | M | proteinuria | Cys172Tyr | 2.80 | Y | 6 | 27 | M | RD | Cys172Tyr | 3.40 | Y | 7 | 46 | F | RD | 846_847delTC | 3.50 | Y | 8 | 24 | F | proteinuria | 846_847delTC | 3.50 | Y | 9 | 20 | F | proteinuria | 846_847delTC | 3.30 | Y | 10 | 58 | F | RD | 846_847delTC | 3.90 | Y | 11 | 36 | M | proteinuria | 846_847delTC | 0.48 | Y | 12 | 36 | F | NRD | Arg112His | 2.80 | N | 13 | 61 | F | NRD | Gln57Arg | 11.10 | N | 14 | 62 | F | NRD | Gln57Arg | 14.80 | N | 15 | 23 | F | NRD | Gln57Arg | 10.40 | N | 16 | 58 | F | NRD | Gln57Arg | 9.80 | Y | 17 | 53 | F | NRD | Asp313Tyr | 15.40 | Y | 18 | 52 | F | NRD | Arg227Gln | 8.10 | N | 19 | 31 | M | NRD | Arg227Gln | 2.50 | Y | 20 | 42 | M | RD | Arg227Gln | 0.10 | Y | 21 | 32 | M | proteinuria | Arg227Gln | 0.70 | Y | 22 | 25 | M | NRD | Arg227Gln | 2.50 | Y | 23 | 19 | F | NRD | Arg227Gln | 6.60 | Y | 24 | 43 | F | NRD | IVS3+G>A | 9.70 | Y |
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NRD: no-renal disease; RD: renal disease; ERT: enzyme replacement therapy; Y: under ERT therapy; N: no ERT therapy. At the time of diagnosis.
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