Table 1.

Patients’ characteristics and clinical data at ERT-naïve baseline

Patient No.	Age, yr	Initial ERT	Current ERT	Infused ERT (current), mg	Time under ERT, mo	GLA Mutation	ACEi/ARB, Yes/No	eGFR, ml/min per 1.73 m2	LVH, yes/no	Lyso-Gb3, ng/ml	Lyso-Gb3, ng/ml per yr	eGFR, ml/min per 1.73 m2 per yr	IVSd, mm/yr
1	70	α	α	17.5	63	p.R301Q	Yes	65.0	Yes	26.7	−1.9	−5.4	+1.7
2	49	α	α	14	54	p.S247P	Yes	45.0	Yes	57.8	+13.1	−10.9	0.0
3	48	α	α	14	46	c.1090_1103del	Yes	6.5	Yes	55.0	−4.7	−0.1a	+0.2
4	47	β	β	70	114	p.L294S	Yes	37.9	No	19.5	−1.5	−16.3b	+1.5
5	44	β	β	70	192	p.R220X	No	99.7	Yes	30.4	−2.1	−0.5	−0.1
6	42	β	β	70	192	p.R220X	No	95.4	Yes	70.0	−4.7	−2.0	+0.3
7	30	β	β	70	190	c.762ins282bp	No	148.8	No	21.5	+2.1	−1.1	−0.2
8	47	α	β	70	152	p.C94S	No	108.5	No	45.7	−5.3	−3.1	−0.1
9	31	β	β	70	7	c.723dupT	No	92.2	N/A	112.0	N/A	−11.8	N/A
10	46	α	β	70	145	p.R227X	Yes	122.7	Yes	110.0	−18.6	−0.1	+0.2
11	19	β	β	70	8	p.R227X	No	148.9	Yes	133.0	N/A	−3.4	+0.7
12	22	α	α	14	43	c.702_709del	No	146.8	Yes	155	−17.4	−0.9	+0.1
13	31	α	α	14	92	c.IVS2–2A>G	No	148.1	No	46.9	−1.7	−2.6	−0.4
14	50	β	β	70	130	p.R220X	Yes	77.8	Yes	55.0	N/A	−0.4	−0.2
15	42	α	α	14	95	p.M1T	No	118.4	Yes	105.0	N/A	−3.4	+0.6
16	31	β	β	70	204	p.R227X	No	145.0	No	41.4	+0.4	−1.7	+0.1
17	24	α	α	14	13	p.Y151X	No	124.6	No	197.0	−10.1	−1.3	+0.1
18	53	β	β	105	122	p.Y173X	No	47.0	Yes	46.9	−13.1	−3.9	+0.2
19	43	β	β	70	162	Deletion E7	Yes	117.8	No	29.9	+0.5	−2.9	+0.1
20	39	α	α	14	47	p.W349X	Yes	104.6	Yes	164.0	−28.1	−3.6	+0.2
21	50	α	α	17.5	191	p.R220X	Yes	110.3	Yes	107.0	−12.6	−3.6	+0.3
22	22	α	β	55	13	p.C202Y	Yes	140.0	Yes	76.8	−53.6	−7.5	−2.8
23	47	β	β	80	24	p.R227X	Yes	61.8	No	170.0	−58.4	−1.7	0.0
24	19	α	α	14	12	p.I91T	No	152.4	N/A	12.9	N/A	N/A	N/A
25	52	β	β	70	181	c.1208delAAG	Yes	120.6	Yes	66.2	−2.9	−2.2	+0.2
26	49	α	α	14	46	c.718_719delAA	Yes	90.5	Yes	65.1	+4.9	−9.5	+0.5
Total
26	44 [19–70]	14 α; 12 β	11 α; 15 β	70 [14–105]	94 [7–204]	6 missense/20 nonsense	13 yes; 13 no	109.4 [6.5–152.4]	16 yes/8 no	74.6 [12.9–197.0]	−4.7 [−58.4 to +13.1]	−3.0 [−16.3 to –0.1]	0.2 [−2.8 to 1.7]

Values are given as total or mean with range. If no values at ERT-naïve baseline were available, the earliest value is presented. Albuminuria: 0=none, 1=microalbuminuria, 2=macroalbuminuria. ACEi, angiotensin-converting enzyme inhibitor; ARB, angiotensin receptor blocker; LVH, left ventricular hypertrophy; N/A, not available.

^aDialysis treatment.

^bKidney transplantation.