Table 1 Demographic and clinical features of patients with Fabry’s disease complicated by crescentic glomerulonephritis
Singh et al. (5) | Singh et al. (5) | Shimazu et al. (6) | This case | |
|---|---|---|---|---|
Age (years) | 11 | 26 | 58 | 29 |
Gender | M | F | F | M |
Chief complaint | Fever, arthralgia | Fever, pedal edema | Hematuria, pedal edema | Fever, sinus tenderness |
BUN (mg/dl) | 35 | ND | 42.3 | 14.4 |
Cr (mg/dl) | 2.6 | 1.4 | 4.7 | 0.9 |
Proteinuria (g/day) | 1.3 | 0.7 | ND | 0.6 |
PR3 ANCA | Negative | Negative | Negative | Positive |
MPO ANCA | Negative | Negative | Negative | Negative |
Anti-GBM antibody | Negative | Negative | Negative | Negative |
ANA | Negative | Negative | Negative | Negative |
Pauci-immune response | Yes | Yes | No | Yes |
Diagnosis of GPA | No | No | No | Yes |
αGL-A activity | < 10%*1 | 50%* | 76.1** | 11.8*** |
Mutation in the αGL-A gene | ND | ND | ND | p.N224H/c.670A > C |
Treatment | PSL IVCY | PSL CYC 150 mg/day | PSL 60 mg/day HD | PSL 60 mg/day CYC 100 mg/day |
Follow-up period (months) | 16 | 15 | 3 | 72 |
Final Cr level (mg/dl) | 8.4 | 1.34 | 2.0–3.0 | 1.30 |