Table 2.
Differences between group 1 (negative for the combined endpoint) and group 2 (reaching the combined endpoint) of patients.
| Variables | Overall (n = 21) |
(−) Combined Endpoint (n = 15) |
(+) Combined Endpoint (n = 6) |
p Value | |
|---|---|---|---|---|---|
|
General
features |
Age at baseline, years, mean ± SD | 43.7 ± 14.2 | 45.7 ± 14.9 | 36.7 ± 9.5 | 0.27 |
| Age at diagnosis, years, mean ± SD | 36.1 ± 14.6 | 39.5 ± 15.1 | 27.7 ±10.1 | 0.10 | |
| Gender, n (%) | 0.06 | ||||
| Male | 11 (52.4%) | 6 (40%) | 5 (83.3%) | ||
| Female | 10(47.6%) | 9 (60%) | 1 (16.7%) | ||
| Hypertension, n (%) | 8 (31.8%) | 5 (33.3%) | 3 (50%) | 0.63 | |
| Diabetes, n (%) | 2 (9.5%) | 2 (13.3%) | 0 (0%) | 0.9 | |
| Obesity n (%) | 3 (14.3%) | 2 (13.3%) | 1 (16.7%) | 1 | |
| Dyslipidemia, n (%) | 11 (52.4%) | 8 (53.3%) | 3 (50%) | 1 | |
| Stroke, n (%) | 4 (19%) | 4 (26.7%) | 0 (0%) | 0.28 | |
| Heart failure, n (%) | 9 (42.9%) | 7 (46.7%) | 2 (33.3%) | 0.44 | |
| eGFR at baseline, ml/min/1.73 m2, mean ± SD | 79.6 ± 26.7 | 82.5 ± 21.3 | 72.2 ± 38.7 | 0.44 | |
| eGFR at last follow-up, ml/min/1.73 m2, mean ± SD | 68.0 ± 37.3 | 82.2 ± 26.4 | 32.5 ± 38.5 | 0.003 | |
| UACR at baseline, mg/g, median (IQR) | 100 (15–422.6) | 80 (20–300) | 500 (10–675) | 0.26 | |
| 24 h proteinuria at baseline, g/24 h, median (IQR) | 0.2 (0.1–1.5) | 0.4 (0.1–0.4) | 2.7 (0.2–3.7) | 0.02 | |
| Follow-up period, months, mean ± SD | 47.7 ± 19.1 | 49.2 ± 19.7 | 44.0 ± 18.4 | 0.58 | |
|
Fabry
features |
Total MSSI at baseline, points, median (IQR) | 22 (10.5–25) | 22 (10–25) | 22 (12.7–24.5) | 0.91 |
| Neurologic manifestation at baseline, n (%) | 18 (85.7%) | 13 (86.6%) | 5 (83.3%) | 0.5 | |
| Hypertrophic cardiomyopathy at baseline, n (%) |
9 (42.8%) | 7 (46.6%) | 2 (33.3%) | 0.47 | |
| Arrhythmias at baseline (%) | 8 (38.1%) | 7 (46.7%) | 1 (16.7%) | 0.33 | |
| Pacemaker at baseline (%) | 1 (4.8%) | 1(6.7%) | 0 (0%) | 1 | |
| αGAL A α-GLA activity, nmol/h/mg, median (IQR) | 0.4 (0.1–1.2) | 0.6 (0.2–1.5) | 0.3 (0–0.4) | 0.13 | |
| Plasma Llyso-GL3 at baseline, ng/mL, median (IQR) | 7.6 (5.5–34.6) | 6.8 (4.9–22.5) | 27 (9.2–105.5) | 0.22 | |
|
Kidney
biopsy |
Glomeruli number, median (IQR) | 8 (5–10) | 8 (5–12) | 6 (4–8) | 0.15 |
| Segmental sclerosis, n (%) | 11 (52.4%) | 5 (33%) | 6 (100%) | 0.009 | |
| Global sclerosis, n (%) | 6 (28.6%) | 3 (20%) | 3 (50%) | 0.29 | |
| Interstitial fibrosis, n (%) <25% 25–50% |
11 (52.4%) 10 (47.6%) |
9 (60%) 6 (40%) |
2 (33.3%) 4 (66.7%) |
0.36 | |
| Tubular atrophy, n (%) | 9 (42.9%) | 5 (33.3%) | 4 (66.7%) | 0.33 | |
| Arteriopathy, n (%) | 8 (38.1%) | 5 (33%) | 3 (50%) | 0.63 | |
| Podocyte GL3 deposits, n (%) | 21 (100%) | 15 (100%) | 6 (100%) | 1 | |
| Tubular GL3 deposits, n (%) | 21 (100%) | 21 (100%) | 21 (100%) | 1 | |
| Glomerular endothelial cell GL3 deposits, n (%) |
20 (95.2%) | 14 (93.3%) | 6 (100%) | 1 | |
| Treatment | FD-specific therapy at the moment of KB, n (%) |
5 (23.8%) | 3 (20%) | 2 (33%) | 0.6 |
| FD-specific therapy after KB, n (%) | 20 (95.2%) | 14 (93.3%) | 6 (100%) | 1 | |
| FD-specific therapy duration, months, median (IQR) | 36 (13–52.5) | 37 (12.2–49.5) | 30 (12.7–60) | 0.98 | |
| RAAS inhibitors, n (%) | 10 (47.6%) | 7 (46.7%) | 3 (50%) | 1 | |
| Outcomes | 50% decrease in eGFR, n (%) | 5 (23.8%) | 0 (0%) | 5 (83.3%) | <0.001 |
| ESKD KF, n (%) | 3 (14.3%) | 0 (%) | 3 (50%) | 0.01 | |
| Mortality, n (%) | 2 (9.5%) | 0 (0%) | 2 (33.3%) | 0.07 | |
| Combined endpoint, n (%) | 6 (28.6) | − | − | − | |
(−) = absent; (+) = present; n = number; SD = standard deviation; eGFR = estimated glomerular filtration rate; UACR = urine albumin: creatinine ratio; IQR = interquartile range; % = percentage; MSSI = Mainz Severity Score Index; α-GLA = α-galactosidase A; lyso-GL3 = globotriaosylsphingosine; GL3 = globotriaosylceramide; FD = Fabry disease; KB = kidney biopsy; KF = kidney failure.