Table 3.
Baseline characteristics of the 17 ERT-treated patients.
| total [n=17] | missense mutations [n=9] | nonsense mutations [n=8] | p-value | |
|---|---|---|---|---|
| age, years | 40.9 ± 18.5 | 48.4 ± 18.8 | 32.5 ± 15.0 | 0.0752 |
| lyso-Gb3, ng/ml | 85.3 ± 50.8 | 51.4 ± 41.8 | 123.4 ± 27.6 | 0.0009 |
| lyso-Gb3 above the reference, n | 17 (100.0) | 8 (88.9) | 8 (100.0) | 0.9999 |
| serum creatinine, mg/dl | 1.22 ± 0.97 | 1.51 ± 1.28 | 0.89 ± 0.28 | 0.4965 |
| eGFR, ml/min/1.73 m² | 94.1 ± 40.0 | 78.6 ± 43.1 | 111.6 ± 29.4 | 0.0745 |
| ACR, mg/g | 114 [0 to 6,767] | 679 [0 to 6,767] | 55 [0 to 1915] | 0.1315 |
| albuminuria, n | 14 (82.4) | 8 (88.9) | 6 (75.0) | 0.5765 |
| dialysis, n | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0.9999 |
| septum thickness, mm | 13.7 ± 4.0 | 14.8 ± 4.6 | 12.5 ± 3.2 | 0.3000 |
| LVH, n | 10 (58.8) | 6 (66.7) | 4 (50.0) | 0.6372 |
| atrial fibrillation, n | 3 (17.6) | 2 (22.2) | 1 (12.5) | 0.9999 |
| myocardial infarction, n | 1 (5.9) | 0 (0.0) | 1 (12.5) | 0.4706 |
| hypertension, n | 6 (35.3) | 6 (66.7) | 0 (0.0) | 0.0090 |
| stroke/TIA, n | 2 (11.8) | 2 (22.2) | 0 (0.0) | 0.4706 |
| RAAS blockers, n | 8 (47.1) | 7 (77.8) | 1 (12.5) | 0.0152 |
| diuretics, n | 2 (11.8) | 2 (22.2) | 0 (0.0) | 0.4706 |
| anticoagulants, n | 4 (23.5) | 3 (33.3) | 1 (12.5) | 0.5765 |
| platelet aggregation inhibitors, n | 2 (11.8) | 2 (22.2) | 0 (0.0) | 0.4706 |
| DS3 total, score | 16.8 ± 10.5 | 21.8 ± 5.6 | 11.9 ± 10.3 | 0.0409 |
| MSSI total, score | 18.9 ± 11.0 | 22.4 ± 10.5 | 15.4 ± 10.9 | 0.2133 |
Values are given as mean ± SD or median [range], if unequal distributed, or number (%). 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.