Table 1.

Characteristics of 20 patients with classic Fabry disease before start of enzyme replacement therapy with agalsidase

No.	Age at Agalsidase Start, yr	Sex	A-Gal Variant	Treatment Group	Alfa Gal Activity	pGb3, μmol/L	Albumin-to-Creatinine Ratio, mg/mmol Creatinine	Protein-to-Creatinine Ratio, mg/mmol Creatinine	eGFR, ml/min per 1.73 m2	Measured GFR, ml/min per 1.73 m2
1	7	M	Missense	Higher dose	2.40	7.5	4.8	28.3	113	106
2	11	M	Truncating	Lower fixed dose	2.70	9.3	3.8	13.0	109	120
3	11	W	Missense	Higher dose	16.80	2.6	6.0	<0.15 g/L	126	105
4	12	M	Truncating	Lower fixed dose	3.80	8.1	0.6	9.0	98	103
5	12	W	Missense	Higher dose	16.5	4.3	1.5	19.2	154	103
6a	13	M	Truncating	Higher dose	0.65	13.3	6.4	11.8	113	107
7a	15	M	Truncating	Higher dose	2.00	9.8	3.0	10.5	111	112
8	16	M	Truncating	Lower fixed dose	8.60	13.4	1.3	10.3	95	112
9	17	M	Missense	Lower fixed dose	2.20	9.0	2.6	8.5	71	99
10	18	M	Missense	Higher dose	3.30	4.8	11.8	28.4	126	96
11	23	M	Truncating	Lower fixed dose	2.50	8.5	13.6	27.5	124	113
12	30	M	Truncating	Lower fixed dose	4.90	10.2	7.2	25.1	118	86
13a	30	M	Truncating	Higher dose	2.30	13.1	3.6	15.4	123	111
14	42	W	Truncating	Higher dose	20.2b	3	7.7	<0.15 g/L	97	118
15	44	W	Truncating	Higher dose	2.2c	3.7	4.4	<0.15 g/L	79	92
16	49	W	Truncating	Lower fixed dose	17.4	2.3	5.9	31.8	111	120
17	51	W	Truncating	Lower fixed dose	13.1d	3.5	1.2	14.2	97	72
18	53	M	Missense	Higher dose	2.1	7	66.4	111.4	75	47
19	57	W	Missense	Lower fixed dose	12.9	1.8	22	45	73	70
20a	62	W	Truncating	Lower fixed dose	26.8	4.5	12.3	32.2	81	60

GFR was measured by iohexol clearance. Alfa Gal activity reference: 17.7–26.4 μkat/kg per protein (without inhibitor). pGb3 reference: 1.6–3.3 μmol/L. Albumin-to-creatinine ratio reference: <2.5 mg/mmol creatinine. Protein-to-creatinine ratio reference: <20 mg/mmol creatinine. GLA mutations: four missense mutations (c.800T>G, c.56T>C, c.334C>T, and c.108G>C) and three truncating mutations (c.1212_1214delAAG, c.679C>T, and c.963delG). A-Gal variant, alfa galactosidase genotype; Alfa Gal activity, alfa galactosidase activity; pGb3, plasma globotriaosylceramide; M, man; W, woman.

^aStart of enzyme replacement therapy 2–3 years before baseline kidney biopsy.

^bAfter kidney transplantation.

^cReference: 19.5–39.0 μkat/kg per protein (without inhibitor).

^dReference: 23–38 μkat/kg per protein (with inhibitor).