Table 3.
Clinical features and enzyme analyses of the Fabry patients
| Patients | Gender | Age at | Manifestations | α-galactosidase A | Lyso-Gb3 | |||
|---|---|---|---|---|---|---|---|---|
| (RV: ≥2 μmol/l/h) | (RV: ≤1.8 ng/ml) | |||||||
| Diagnosis | Acroparesthesia | Cerebrovascular | Cardiac | Renal | ||||
| P 1a | M | 41 | + | WMLs, pulvinar sign | Left ventricular hypertrophy | CKD | 0.5 | 33.3 |
| 2a | F | 51 | + | - | Silent acute coronary syndrome | - | 8.1 | 5,6 |
| 3a | M | 31 | + | - | - | Proteinuria | 0.66 | 31.1 |
| 4a | M | 29 | + | - | Atrial fibrillation | - | 2 | / |
| 5a | M | 23 | + | - | - | - | 2 | 51 |
| 6a | F | 18 | + | - | - | - | 6.6 | 4.7 |
| P 7b | F | 51 | - | Recurrent stroke and WMLs | Left ventricular hypertrophy | CKD | 15.4 | 2.5 |
| 8b | M | 21 | - | - | - | - | 2 | / |
| 9b | F | 49 | - | - | - | - | 5.3 | 1.3 |
Abbreviations: P proband; aR227Q, bD313Y, + yes, − no, RV reference values, /,not available