Table 1.
Baseline characteristics of patients included in the study
| Parameter | Podocytopathies (n=133) | Collagenopathies (n=48) | CKDu (n=34) | Tubulopathies (n=109) | Ciliopathies (n=69) | CAKUT (n=15) | Syndromic CKD (n=32) | Metabolic Kidney Disorders (n=36) | Study Population (n=476) |
|---|---|---|---|---|---|---|---|---|---|
| Diagnostic categories | |||||||||
| Congenital, n (%) | 0 | 0 | 0 | 12 (11.0) | 5 (7.2) | 2 (13.3) | 1 (3.1) | 1 (2.8) | 21 (4.4) |
| Age <18 yr, n (%) | 82 (61.7) | 33 (68.8) | 16 (47.1) | 63 (57.8) | 42 (60.9) | 11 (73.3) | 23 (71.9) | 29 (80.6) | 299 (62.8) |
| Age ≥18 yr, n (%) | 51 (38.3) | 15 (31.3) | 18 (52.9) | 34 (31.2) | 22 (31.9) | 2 (13.3) | 8 (25.0) | 6 (16.7) | 156 (32.8) |
| Age at referral, (yr), median (IQR) | 15 (6–23) | 13 (8–34) | 21 (11–40) | 8 (2–22) | 9 (4–24) | 1 (0–5) | 8 (1–18) | 7 (2–15) | 11 (4,0–23,0) |
| Female, n (%) | 62 (44.6) | 27 (56.3) | 11 (32.4) | 56 (51.4) | 26 (37.7) | 5 (33.3) | 18 (56.3) | 14 (38.9) | 219 (46,0) |
| Europeans (self-reported), n (%) | 119 (89.5) | 43 (89.6) | 28 (82.4) | 98 (88.3) | 67 (97.1) | 13 (86.7) | 26 (81.3) | 31 (86.1) | 425 (89.2) |
| Selection criteria | |||||||||
| Resistance to treatments, n (%) | 128 | 3 | 0 | 0 | 0 | 0 | 3 | 0 | 134 (28.2) |
| Family history of kidney disease and/or parental’ consanguinity, n (%) | 32 | 42 | 28 | 28 | 37 | 8 | 15 | 22 | 212 (44.5) |
| Extrarenal involvement, n (%) | 26 | 11 | 6 | 28 | 13 | 4 | 32 | 5 | 125 (26.3) |
| CAKUT and CKD stage G2 or higher, n (%) | 2 | 0 | 0 | 1 | 2 | 15 | 12 | 4 | 36 (7.6) |
| At least two cysts in each kidney on kidney US, n (%) | 0 | 0 | 1 | 1 | 60 | 0 | 3 | 8 | 73 (15.3) |
| Persistent hyperechoic kidneys or nephrocalcinosis on kidney US, n (%) | 1 | 0 | 0 | 32 | 4 | 1 | 5 | 27 | 70 (14.7) |
| Persistent metabolic abnormalities, n (%) | 0 | 0 | 0 | 103 | 0 | 0 | 2 | 7 | 112 (23.5) |
| Diagnostic yield, % (n) | 54.1 (72/133) | 69.2 (29/48) | 17.6 (6/34) | 86.2 (94/109) | 87 (60/69) | 46.7 (7/15) | 78.1 (25/32) | 72.2 (26/36) | 67 (319/476) |
CKDu, CKD of unknown origin; IQR, interquartile range; CAKUT, congenital anomalies of the kidney and urinary tract; US, ultrasound scanning.