Table 1.
Genetic mutations and clinical records of four Fabry patients.
| Patient Number | FD-1 | FD-2 | FD-3 | FD-4 | ||||
|---|---|---|---|---|---|---|---|---|
| Gender | Male | Male | Male | Male | ||||
| Age | 37 yr | 28 yr | 50 yr | 28 yr | ||||
| Diagnosis (Giuliano and Pages) | 18 yr | 24 yr | 32 yr | 20 yr | ||||
| Phenotype | Classical | Classical | Classical | Classical | ||||
| GLA activity,1 % of Median Wild type | 0.0% | 0.6% | 0.0% | 0.6% | ||||
| GLA mutation c. | c.803_806del | c.658C>T | c.334C>T | c.1045T>C | ||||
| GLA mutation p. | p.L268fs*1 | p.Arg220* | p.Arg112Cys | p.Trp349Arg | ||||
| ERT duration (yrs) | 0 | 12 | 0 | 3 | 0 | 11 | 0 | 7 |
| Serum GL3 (3.9–9.9 ug/ml) | 18 | 4.8 | 16 | 8.3 | 10 | 5.5 | 12 | 5.6 |
| Angiokeratoma | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Cornea verticillata | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Sensorineural hearing loss | (+) | (+) | (-) | (+) | (+) | (+) | (-) | (-) |
| EKG abnormality | WPW | WPW | SB | SB | SB | SB | WPW | WPW |
| Cardiac hypertrophy | (-) | (-) | (-) | (-) | (+) | (+) | (-) | (-) |
| LV mass (g/m2) | n.a. | 89 | 89 | 98 | 126 | 153 | 94 | 105 |
| Anhidrosis/ Hypohydrosis | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Acroparesthesia | (+) | (+) | (+) | (+) | (-) | (-) | (+) | (+) |
| Proteinuria (mg/day/m2) | 11 | 106 | 0.032 | 73 | 109 | 98 | 72 | 35 |
| Estimated glomerular filtration rate (ml/min/1.73m2) | 141 | 139 | 125 | 122 | 58 | 46 | 123 | 122 |