Table 3.
Comparison between patients with and without pathogenic/likely pathogenic variants.
| Characteristic | Pathogenic or Likely Pathogenic Variants | p Value | |
|---|---|---|---|
| Positive (n = 13) | Negative (n = 81) | ||
| Male sex | 11 (84.6) | 67 (82.7) | 1.000 |
| Age at enrollment, years | 15.5 (12.2–19.9) | 15.3 (9.3–19.3) | 0.360 |
| Age at last follow up, years | 18.1 (13.8–22.4) | 17.2 (11.9–21.3) | 0.324 |
| Renal phenotype | 0.293 | ||
| Bilateral lesions | |||
| bRHD with/without Others a | 8 (61.5) | 36 (44.4) | |
| uAgenesis + cOthers a | 1 (7.7) | 6 (7.4) | |
| uMCDK + cOthers a | 3 (23.1) | 6 (7.4) | |
| uRHD + cOthers a | 0 | 11 (13.6) | |
| bVUR | 1 (7.7) | 13 (16.0) | |
| bObstructive uropathy b | 0 | 4 (4.9) | |
| Unilateral lesions | 0 | 5 (6.2) | |
| Bilateral renal anomalies | 10 (76.9) | 42 (51.9) | 0.091 |
| Kidney function | 0.282 | ||
| Normal | 1 (7.7) | 5 (6.2) | |
| CKD | 4 (30.8) | 44 (54.3) | |
| ESRD | 8 (61.5) | 32 (39.5) | |
| Age at diagnosis of ESRD, years | 13.6 (10.4–20.3) | 13.9 (8.9–19.7) | 0.914 |
| Age at 50% kidney survival c, years | 20.8 (10.2–31.4) | 20.0 (17.2–22.8) | 0.280 |
| Family history of CAKUT d | 1 (7.7) | 4 (4.9) | 0.533 |
| Syndromic CAKUT | 11 (84.6) | 21 (25.9) | <0.001 |
| Premature birth | 3 (23.1) | 20 (24.7) | 1.000 |
| Small for gestational age | 3 (23.1) | 14 (17.3) | 0.698 |
| Oligohydramnios | 3 (23.1) | 19 (23.5) | 1.000 |
Values are expressed as numbers (%) and median (interquartile range). a Including renal hypodysplasia, multicystic dysplastic kidney, and renal agenesis. b Including posterior urethral valve (n = 3) and bilateral ureteropelvic junction obstruction (n = 1). c The median (95% confidence interval) estimated by Kaplan–Meier survival analysis. d Reporting by the patients and parents. b, bilateral; u, unilateral; c, contralateral; RHD, renal hypodysplasia; VUR, vesicoureteral reflux; MCDK, multicystic dysplastic kidney; CKD, chronic kidney disease; ESRD, end stage renal disease; CAKUT, congenital anomalies of the kidney and urinary tract.