Table 3. Influence of mutation number of PKD1 on clinical phenotype.
| Characteristic | Mutation number = 1 (n = 55) | Mutation number > 1 (n = 63) | P Value |
|---|---|---|---|
| Sex (male/female) | 23/32 | 32/31 | 0.330 |
| Age (yr) | 42.67 ± 12.91 | 44.21 ± 12.74 | 0.539 |
| Age at diagnosis (yr) | 33.47 ± 7.46 | 33.78 ± 11.25 | 0.889 |
| Clear family history | 27 (49.1%) | 41 (65.1%) | 0.080 |
| Polycystic liver | 15 (27.3%) | 32 (50.8%) | 0.009 |
| hypertension | 29 (53.7%) | 31 (48.4%) | 0.569 |
| Urologic complication | 27 (49.1%) | 28 (44.4%) | 0.614 |
| Born as the first child | 6 (10.9%) | 18 (28.6%) | 0.017 |
| BMI (kg/m2) | 22.21 (21.22–24.80) | 22.12 (2.019–24.80) | 0.591 |
| Hemoglobin (g/L) | 128.28 ± 19.20 | 127.97 ± 23.48 | 0.953 |
| White blood cell count (*109/L) | 6.32 ± 1.82 | 6.15 ± 2.28 | 0.751 |
| Platelet (*109/L) | 210.67 ± 78.38 | 208.50 ± 66.26 | 0.903 |
| Serum albumin (g/L) | 44.38 ± 4.63 | 42.46 ± 6.00 | 0.170 |
| Serum total protein (g/L) | 71.29 ± 6.09 | 71.46 ± 5.84 | 0.918 |
| Serum creatinine (μmol/L) | 95.20 (63.28–193.41) | 112.00 (91.05–221.68) | 0.035 |
| Serum urea nitrogen (mmol/L) | 7.48 (4.99–10.00) | 7.06 (5.84–8.62) | 0.949 |
| Serum uric acid (μmol/L) | 329.47 ± 121.03 | 365.90 ± 98.07 | 0.146 |
| CysC (mg/L) | 1.02 (0.71–1.78) | 1.11 (0.89–2.99) | 0.148 |
| eGFR (ml/min) | 71.79 (27.09–112.55) | 54.51 (25.19–82.97)a | 0.033 |
| Urine protein quantity (g/24 h) | 0.19 (0.050.83) | 0.20 (0.06–0.70) | 0.693 |
| Kidney volume (mm3) | 351.97 (199.35–904.72) | 864.11 (632.63–1486.92)a | 0.035 |
BMI, Body Mass Index; eGFR, estimated Glomerular Filtration Rate.
aP < 0.05 compared with group with one mutation.