| Characteristic |
Value |
| Number of families |
56 |
| Number of patients |
67 |
| Pediatric cases <16 years [n (%)] |
27 (40) |
| Adult cases >16 years [n (%)] |
40 (60) |
| Male gender [n (%)] |
39 (58) |
| Female gender [n (%)] |
28 (42) |
| Age at diagnosis [years (median)] |
31.3 (0.5 to 73) |
| Age at diagnosis pediatric cases [years (range)] (n=21) |
4.5 (0.5 to 15) |
| Age at diagnosis adult cases [years (range)] (n=38) |
46 (22 to 73) |
| Number of patients with age information about first symptoms [n (%)] |
27 (40) |
| Number of patients with diagnosis delay [n (%)] |
19 (70) |
| Diagnosis delay 0-10 years [n (%)] |
9 (47) |
| Diagnosis delay 10-43 years [n (%)] |
10 (53) |
| Presymptomatic diagnosis [n (%)] |
2 (3) |
| Clinical presentation at diagnosis |
|
| Lithiasis [n (%)] |
|
| Pediatric cases |
25 (93) |
| Adult cases |
29 (73) |
| Crystalline nephropathy [n (%)] |
|
| Pediatric cases |
0 (0) |
| Adult cases |
11 (27) |
| Renal graft [n (%)] |
|
| Pediatric cases |
0 (0) |
| Adult cases (5 crystalline nephropathy) |
8 (20) |
