Table 4.
Clinical characteristics of 54 prospectively followed ARPKD patients with respect to portal hypertension.
| No Portal Hypertension | Portal Hypertension | p value | Stable Portal Hypertension | Progressive Portal Hypertension | P value | |
|---|---|---|---|---|---|---|
| Number of patients (%) | 18 of 54 (40%) | 36 of 54 (60) | - | 14 of 36 (39) | 22 of 36 (61) | - |
| Age* | 9.0 ± 5.8 | 11.2 ±11.5 | - | 15.4 ± 15.5 | 8.6 ± 7.4 | - |
| Number of Patients with Truncating£ PKHD1 Variants (%) | 6 of 18 (33) | 14 of 36 (39) | 0.690 | 3 of 14 (21) | 11 of 22 (50) | 0.087 |
| ALT | 23 ± 8 | 29 ± 18 | 0.193 | 22 ± 4 | 34 ± 22 | 0.081 |
| AST | 33 ± 11 | 41 ± 18 | 0.088 | 32 ±11 | 48 ± 19 | 0.013 |
| GGT | 15 ± 6 | 26 ± 20 | 0.030 | 23 ± 17 | 29 ± 22 | 0.467 |
| PT | 12.97 ± 0.58 | 13.53 ± 1.22 | 0.075 | 13.58 ± 1.24 | 13.50 ± 1.06 | 0.858 |
| Direct bilirubin | 0.11 ± 0.03 | 0.16 ± 0.08 | 0.048 | 0.13 ± 0.07 | 0.18 ± 0.09 | 0.197 |
| Albumin | 4.14 ± 0.31 | 3.94 ± 0.40 | 0.086 | 4.01 ± 0.45 | 3.88 ± 0.36 | 0.375 |
| Ammonia | 26 ± 9 | 50 ± 27 | 0.014 | 35 ± 15 | 62 ± 30 | 0.016 |
| Platelet count | 271 ± 61 | 171 ± 84 | <0.0001 | 179 ± 74 | 167 ± 91 | 0.684 |
| APRI | 0.30 ± 0.12 | 0.83 ± 0.84 | 0.018 | 0.53 ± 0.29 | 1.04 ± 1.05 | 0.115 |
| Increased liver echogenicity** | 9 of 18 (50) | 28 of 36 (78) | 0.051 | 11 of 14 (79) | 17 of 22 (77) | 0.943 |
| Number of Patients with Liver cysts (%) | 3 of 18 (17) | 19 of 36 (53) | 0.038 | 4 of 14 (29) | 15 of 22 (68) | 0.065 |
| eGFR slope | −0.91 + 4.05 | −0.43 + 4.4 | 0.743 | −0.15 + 4.4 | −0.63 + 4.6 | 0.809 |
Six of the 60 patients with multiple NIH visits were excluded from portal hypertension-related analysis because 2 had surgical portosystemic shunt placed, 3 received liver transplantation after the first NIH visit and 1 had hereditary spherocytosis.
Age at first NIH evaluation.
Moderate to severe liver echogenicity on ultrasound, ALT, alanine aminotransferase; AST, aspartate aminotransferase; GGT, gamma-glutamyl transferase; PT, prothrombin time; APRI, AST to Platelet Ratio Index; eGFR, estimated glomerular filtration rate. Laboratory values are from the first NIH visits.
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.