Table 1: Clinical and genetic features of Fabry’s patients.

PatientAgeGenderRenal involvementGLA mutationsα-galactosidase A
(nmol/mL/h)*
ERT

159FRDCys172Tyr1.70Y
226FRDCys172Tyr4.68Y
330MNRDCys172Tyr3.70Y
438MNRDCys172Tyr5.30Y
533MproteinuriaCys172Tyr2.80Y
627MRDCys172Tyr3.40Y
746FRD846_847delTC3.50Y
824Fproteinuria846_847delTC3.50Y
920Fproteinuria846_847delTC3.30Y
1058FRD846_847delTC3.90Y
1136Mproteinuria846_847delTC0.48Y
1236FNRDArg112His2.80N
1361FNRDGln57Arg11.10N
1462FNRDGln57Arg14.80N
1523FNRDGln57Arg10.40N
1658FNRDGln57Arg9.80Y
1753FNRDAsp313Tyr15.40Y
1852FNRDArg227Gln8.10N
1931MNRDArg227Gln2.50Y
2042MRDArg227Gln0.10Y
2132MproteinuriaArg227Gln0.70Y
2225MNRDArg227Gln2.50Y
2319FNRDArg227Gln6.60Y
2443FNRDIVS3+G>A9.70Y

NRD: no-renal disease; RD: renal disease; ERT: enzyme replacement therapy; Y: under ERT therapy; N: no ERT therapy.
At the time of diagnosis.