Table 2.
Clinical presentation at diagnosis of APRT deficiency
| Parameter | Value |
|---|---|
| No. of families | 33 |
| No. of patients | 40 |
| <16 years (n [%]) | 15 (37.5) |
| >16 years (n [%]) | 25 (62.5) |
| Male gender (n [%]) | 24 (60.0) |
| Parental consanguinity (n = 34; n [%]) | 5 (14.7) |
| Age at diagnosis (years; median [IQR]) | 28.9 (5.6 to 51.0) |
| Familial screening (asymptomatic; n [%]) | 2 (5.0) |
| History of urolithiasis (n [%]) | 36 (90.0) |
| Age at first lithiasis (n = 31; years; median [IQR]) | 12.5 (3.1 to 35.0) |
| Delay from first lithiasis to diagnosis (years; median [IQR]) | 1.5 (0.0 to 17.2) |
| Lithiasis episodes (n [%]) | |
| 0 | 4 (10.0) |
| 1 to 2 | 17 (42.5) |
| 3 to 5 | 10 (25.0) |
| >5 | 9 (22.5) |
| Urologic procedures (n [%]) | |
| 0 | 23 (57.5) |
| 1 to 2 | 12 (30.0) |
| 3 to 5 | 4 (10.0) |
| >5 | 1 (2.5) |
| Type of urologic procedures (n [%]) | |
| extracorporeal shock waves lithotripsy | 12 (30.0) |
| ureteroscopy | 5 (12.5) |
| percutaneous nephrolithotomy | 3 (7.5) |
| surgery | 5 (12.5) |
| nephrectomy | 1 (2.5) |
| Acute renal failure (n [%]) | 1 (2.5) |
| Chronic renal failure (n [%]) | 13 (32.5) |
| ESRD reached before diagnosis (n [%]) | 6 (15.0) |
| Renal transplant recipients not on dialysis (n [%]) | 4 (10.0) |
| Renal transplant recipients on dialysis (n [%]) | 2 (5.0) |
Full clinical data for 40 patients from 33 families are provided. (n indicates the number of patients for whom data was available when the information was lacking for some patients).