Table 1.
Patient demographics and baseline characteristics (n = 10).
| No. | Sex | Age (yr) | Height (cm) | Weight (kg) | Age at diagnosis (yr) | Genotype | α-Gal a activity (nmol/h/mg) | Clinical symptoms | Previous ERT | Duration of ERT (yr) | Plasma Gb3 (μg/mL) | Urine Gb3 (μg/mg Cr.) | LVMI (g/m2) | Proteinuria (mg/d) | eGFR (mL/min/1.73 m2) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 49 | 171.1 | 67.5 | 46 | c.966C>G | Leukocyte | LVH, right bundle branch block, acroparesthesia, hypohidrosis, heat intolerance, psoriasis, corneal opacity, tinnitus, hearing loss, vertigo | Fabrazyme | 3 | 11 | 0.09 | 275.1 | 90 | 94 |
| (p.Asp322Glu) | 0.72 | ||||||||||||||
| 2 | M | 28 | 165.9 | 78.4 | 19 | c.1235_1236del | Plasma | LVH, bradycardia, 1st degree AV block, proteinuria, acroparesthesia, hypohidrosis, heat intolerance, angiokeratoma, cataract, tinnitus | Fabrazyme | 9 | 7.2 | 0.33 | 127.3 | 2029.7 | 90 |
| (p.Thr412Serfs*38) | 0 | ||||||||||||||
| 3 | M | 23 | 176.6 | 61.6 | 16 | c.1235_1236del | Leukocyte | Bradycardia, WPW syndrome, acroparesthesia, hypohidrosis, heat intolerance, cornea verticillata, myopia with astigmatism, tinnitus | Fabrazyme | 7 | 7.5 | 0.13 | 92.11 | 60 | 121 |
| (p.Thr412Serfs*38) | 0 | ||||||||||||||
| 4 | M | 21 | 174.4 | 63 | 16 | c.426C>G | Leukocyte | Bradycardia, acroparesthesia, hypohidrosis, angiokeratoma, myopia | Fabrazyme | 5 | 7.5 | 0.1 | 80.2 | 110.1 | 134 |
| (p.Cys142Trp) | 0 | ||||||||||||||
| 5 | F | 44 | 154.7 | 74.2 | 44 | c.928C>G | Leukocyte | Proteinuria, acroparesthesia, hypohidrosis, angiokeratoma, hearing loss | - | 0 | 7.8 | 0.05 | 81.5 | 32.6 | 94 |
| (p.Leu310Val) | 31.6 | ||||||||||||||
| 6 | M | 26 | 168 | 60 | 24 | c.861G>A | Leukocyte | Acroparesthesia, hypohidrosis | Fabrazyme | 1 | 10.8 | 7.37 | 76.5 | 52 | 109 |
| (p.Trp287*) | 3 | ||||||||||||||
| 7 | M | 23 | 167 | 56 | 21 | c.861G>A | Leukocyte | Proteinuria, acroparesthesia, hypohidrosis | Fabrazyme | 1 | 8.5 | 4.09 | 645.5 | 235 | 159 |
| (p.Trp287*) | 2.4 | ||||||||||||||
| 8 | M | 32 | 172 | 74.9 | 24 | c.982G>A | Plasma | LVH, proteinuria | Fabrazyme | 7 | 7.1 | 0.54 | 104.4 | 1123.2 | 74 |
| (p.Gly328Arg) | 0.01 | ||||||||||||||
| 9 | F | 28 | 161.2 | 49.4 | 27 | c.676T>G | Plasma | Proteinuria, acroparesthesia, hypohidrosis | - | 0 | 6 | 1.08 | 52.7 | 286 | 127 |
| (p.Trp226Gly) | 0.12 | ||||||||||||||
| 10 | F | 56 | 165.8 | 71.9 | 53 | c.611-11T>A | NA | LVH, atrial fibrillation, proteinuria, acroparesthesia, corneal opacity | Fabrazyme | 1 | 7.6 | 0.06 | 121.4 | 178.1 | 68 |
Normal range of α-gal A activity in leukocyte > 37 nmol/h/mg; in plasma > 4 mmol/h/mg. LVH (left ventricular hypertrophy) was defined as LVMI (left ventricular mass index) > 95 g/m2 for females and >115 g/m2 for males. Proteinuria was defined as >150 mg/d.
eGFR = estimated glomerular filtration rate, ERT = enzyme replacement therapy, Gb3 = globotriaosylceramide, NA = not available, WPW = Wolff-Parkinson-White syndrome.