Table 1.
Baseline characteristics of treatment-naïve FD patients.
| total [n=24] | missense mutations [n=15] | nonsense mutations [n=9] | p-value | |
|---|---|---|---|---|
| age, years | 42.6 ± 19.0 | 47.7 ± 19.8 | 34.0 ± 14.8 | 0.0865 |
| lyso-Gb3, ng/ml | 72.1 ± 57.8 | 38.0 ± 40.4 | 128.9 ± 30.6 | 0.0001 |
| lyso-Gb3 above the reference, n | 21 (87.5) | 12 (80.0) | 9 (100.0) | 0.2663 |
| serum creatinine, mg/dl | 1.13 ± 0.83 | 1.25 ± 1.03 | 0.91 ± 0.27 | 0.3436 |
| eGFR, ml/min/1.73 m² | 96.1 ± 37.3 | 88.7 ± 40.5 | 108.3 ± 29.3 | 0.2193 |
| ACR, mg/g | 56 [0-6767] | 57 [0-6767] | 56 [0-1915] | 0.9391 |
| albuminuria, n | 15 (65.2) | 8 (57.1) | 7 (77.8) | 0.3998 |
| dialysis, n | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0.9999 |
| septum thickness, mm | 13.4 ± 4.3 | 13.7 ± 4.9 | 12.8 ± 3.1 | 0.6590 |
| LVH, n | 14 (63.6) | 9 (64.3) | 5 (62.5) | 0.9999 |
| atrial fibrillation, n | 4 (16.7) | 3 (20.0) | 1 (11.1) | 0.9999 |
| myocardial infarction, n | 1 (4.2) | 0 (0.0) | 1 (11.1) | 0.3750 |
| hypertension, n | 9 (37.5) | 9 (60.0) | 0 (0.0) | 0.0068 |
| stroke/TIA, n | 3 (12.5) | 3 (20.0) | 0 (0.0) | 0.2663 |
| RAAS blockers, n | 11 (45.8) | 10 (66.7) | 1 (11.1) | 0.0131 |
| diuretics, n | 2 (8.3) | 2 (13.3) | 0 (0.0) | 0.5109 |
| anticoagulants, n | 4 (16.7) | 3 (20.0) | 1 (11.1) | 0.9999 |
| platelet aggregation inhibitors, n | 4 (16.7) | 2 (13.3) | 2 (22.2) | 0.6146 |
| DS3 total, score | 16.4 ± 9.7 | 18.5 ± 8.8 | 13.3 ± 10.6 | 0.2315 |
| MSSI total, score | 18.0 ± 10.8 | 19.0 ± 11.1 | 16.4 ± 10.7 | 0.5964 |
Values are given as mean ± SD or median [range], if non-normally distributed. The frequency (%) is given in parenthesis. Platelet aggregation inhibitors include acetylsalicylic acid or clopidrogel. Anticoagulants include treatment with vitamin K antagonists (VKAs) or direct oral anticoagulants (DOACs/NOACs). Statistically significant differences between groups are shown in bold. ACR, albumin-creatinine ratio; ADA, anti-drug antibodies; DS3, Disease Severity Score System; eGFR, estimated glomerular filtration rate (CKD-EPI-based); ERT, enzyme replacement therapy; LVH, left ventricular hypertrophy defined as septum thickness >11.5 mm; lyso-Gb3, globotriaosylsphingosine (reference value ≤1.8 ng/ml); MSSI, Mainz Severity Score Index; RAAS, renin-angiotensin-aldosterone-system.