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

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