Table 2.
Characteristics of kidney disease and PKHD1 variants in 60 ARPKD patients prospectively evaluated at the NIH Clinical Center on multiple visits.
| PKHD1 Variant Type | Presentation | Extent of Kidney Disease on USG | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Truncating£ | Non-truncating£ | P Value | Perinatal | Non-perinatal | P Value | Corticomedullary | Medullary | P Value | |
| Number of patients* | 22 of 60 (37) | 38 of 60 (63) | - | 27 of 60 (45) | 33 of 60 (55) | - | 40 of 60 (67) | 20 of 60 (33) | - |
| Age(y)** | 14.5 ±13.8 | 9.1 ± 6.3 | - | 8.9 ± 6.9 | 12.8 ±11.7 | - | 10.1 ± 9.0 | 13.1 ±11.7 | - |
| Patients with truncating PKHD1 mutations | 22 of 22 (100) | 0 of 38 (0) | - | 10 of 27 (37) | 12 of 33 (36) | - | 17 of 40 (43) | 5 of 20 (25) | - |
| Patients with perinatal presentation | 10 of 22 (46) | 17 of 38 (45) | - | 27 of 27 (100) | 0 of 33 (0) | - | 24 of 40 (60) | 3 of 20 (15) | - |
| Patients with corticomedullary involvement | 17 of 22 (77) | 23 of 38 (61) | - | 24 of 27 (89) | 16 of 33 (49) | - | 40 of 40 (100) | 0 of 20 (0) | - |
| Kidney length corrected for height (cm)¥ | 16.3 ± 3.8 | 17.1 ± 3.8 | 0.46 | 18.0 ± 4.1 | 15.9 ± 3.4 | 0.05 | 18.4 ± 3.7 | 14.0 ± 1.7 | < 0.0001 |
| Kidney volume corrected for BSA (ml)¥ | 433 ± 258 | 498 ± 370 | 0.47 | 611 ± 417 | 394 ± 218 | 0.04 | 603 ± 348 | 240 ± 39 | < 0.0001 |
| eGFR slope (ml/mm/1.73m2/y) | −2.2 + 3.9 | −0.6 + 3.4 | 0.14 | −1.6 + 3.7 | −1.0 + 3.7 | 0.60 | −1.6 + 3.1 | −0.6 + 4.7 | 0.46 |
*
Results are reported as number (percentage), and mean ± standard deviation
**
Age at the time of first NIH evaluation
¥
Data from first NIH visit
£
Based on the severity of the pathogenic variants in PKHD1, patients were classified into “truncating” (one protein truncating only or one truncating in combination with a missense variants) and “non-truncating” (one or two missense variants) groups.