Table 1.
Demographic and clinical characteristics of Fabry patients.
| Patient No. | Sex | Age (year) | Angiokeratoma | Acroparesthesia/pain | Corneal opacity | UPCR | S/Cr (mg/dl) | GFR |
|---|---|---|---|---|---|---|---|---|
| 1 | m | 4 | − | − | − | 0 | 0.5 | >90* |
| 2 | m | 7 | − | − | − | 0 | 0.49 | 183† |
| 3 | f | 8 | + | + | + | 0.04** | NA | NA |
| 4 | f | 9 | − | + | − | 19 | 0.59 | 106† |
| 5 | m | 11 | + | + | + | 0.039** | NA | NA |
| 6 | f | 11 | − | + | + | <0.015 | 0.51 | 105† |
| 7 | m | 12 | + | + | + | 0.039** | NA | NA |
| 8 | f | 12 | − | + | − | 29 | 0.69 | 109† |
| 9 | f | 13 | − | + | + | 0 | 0.81 | 97† |
| 10 | f | 14 | − | + | + | 62 | 0.57 | 90† |
| 11 | m | 15 | + | + | + | 0.1–0.6 (g/d) | 0.75 | NA |
| 12 | m | 16 | + | + | + | 92 | 0.72 | 112† |
| 13 | m | 18 | + | + | + | 251 | 0.87 | 96† |
| 14 | m | 19 | + | + | + | 0.05** | 0.6 | 120‡ |
UPCR= urinary protein creatinine ratio; S/Cr=serum creatinine; GFR=glomerular filtration rate; ND= not detectable per historical records; NA=not available S/Cr or GFR, but blood urea nitrogen value was normal.
GFR values based on clearances of *Cystatin C, †iohexol, or ‡creatinine; **average normal UPCR for age from Ref# 34. Patients (1 and 2), (3 and 7), and (4 and 8) are siblings.