Table 2. Influence of presence or absence of mutation in targeted region on clinical phenotype.
| Characteristic | With mutation (n = 127) | Without mutation (n = 21) | P Value |
|---|---|---|---|
| Sex (male/female) | 59/68 | 11/10 | 0.644 |
| Age (yr) | 44.22 ± 12.80 | 40.24 ± 11.58 | 0.185 |
| Age at diagnosis (yr) | 34.38 ± 9.80 | 32.55 ± 12.54 | 0.573 |
| Clear family history | 74 (58.4%) | 8 (38.1%) | 0.085 |
| Polycystic liver | 54 (42.5%) | 5 (23.8%) | 0.105 |
| hypertension | 65 (51.2%) | 1 (52.4%) | 0.919 |
| Urologic complication | 61 (48.0%) | 9 (42.9%0 | 0.660 |
| Born as the first child | 98 (77.2%) | 18 (85.7%) | 0.378 |
| BMI (kg/m2) | 22.40 (20.96–24.80) | 23.09 (20.38–24.85) | 0.683 |
| Hemoglobin (g/L) | 127.61 ± 22.06 | 135.09 ± 10.94 | 0.274 |
| White blood cell count (*109/L) | 6.27 ± 2.11 | 5.93 ± 1.05 | 0.607 |
| Platelet (*109/L) | 207.18 ± 69.64 | 192.20 ± 59.05 | 0.519 |
| Serum albumin (g/L) | 43.04 ± 5.57 | 46.42 ± 5.28 | 0.089 |
| Serum total protein (g/L) | 70.72 ± 6.05 | 74.66 ± 3.65 | 0.061 |
| Serum creatinine (μmol/L) | 103.08 (74.15–205.11) | 57.55 (53.50–101.55) | 0.003a |
| Serum urea nitrogen (mmol/L) | 7.29 (5.45–9.60) | 5.03 (3.82–6.99) | 0.013a |
| Serum uric acid (μmol/L) | 343.97 ± 108.80 | 303.17 ± 133.22 | 0.223 |
| CysC (mg/L) | 1.12 (0.81–1.86) | 0.66 (0.53–1.23) | 0.009a |
| eGFR (ml/min) | 63.71 (25.65–96.35) | 102.72 (72.80–126.90) | 0.005a |
| Urine protein quantity (g/24 h) | 0.19 (0.06–0.70) | 0.15 (0.00–0.60) | 0.640 |
| Kidney volume (mm3) | 754.88 (240.08–1125.54) | 188.19 (113.68–353.69) | 0.011a |
BMI, Body Mass Index; eGFR, estimated Glomerular Filtration Rate.
aP < 0.05 compared with group with mutation.