Table 4. Influence of mutation pathogenic type of PKD1 on clinical phenotype.

Characteristic	Pathogenic (n = 69)	Indeterminate (n = 49)	Without variants (n = 21)	P Value
Sex (male/female)	26/43	29/20	11/10	0.048
Age (yr)	42.31 ± 11.62	44.98 ± 14.06	40.24 ± 11.58	0.263
Age at diagnosis (yr)	30.98 ± 7.43	37.14 ± 11.22	32.55 ± 12.54	0.020
Clear family history	42 (60.9%)	25 (52.1%)	8 (38.1%)	0.172
Polycystic liver	31 (44.9%)	16 (33.3%)	5 (23.8%)	0.161
hypertension	33 (47.8%)	27 (57.4%)	1 (52.4%)	0.595
Urologic complication	27 (39.1%)	28 (58.3%)	9 (42.9%)	0.115
Born as the first child	53 (76.8%)	40 (83.3%0	18 (85.7%)	0.548
BMI (kg/m2)	21.88 (20.53–24.76)	22.40 (21.22–25.71)	23.09 (20.38–24.85)	0.581
Hemoglobin (g/L)	127.54 ± 22.91	128.87 ± 19.75	135.09 ± 10.94	0.565
White blood cell count (*109/L)	5.98 ± 1.97	6.54 ± 2.18	5.93 ± 1.05	0.423
Platelet (*109/L)	196.95 ± 66.85	225.48 ± 75.07	192.20 ± 59.05	0.188
Serum albumin (g/L)	42.99 ± 5.64	43.63 ± 5.42	46.42 ± 5.28	0.260
Serum total protein (g/L)	70.59 ± 5.90	72.34 ± 5.85	74.66 ± 3.65	0.150
Serum creatinine (μmol/L)	151.80 (91.15–314.25)	90.30 (64.65–115.50)a	57.55 (53.50–101.55)a	<0.001
Serum urea nitrogen (mmol/L)	7.92 (6.25–14.05)	7.00 (4.97–8.07)a	5.03 (3.82–6.99)a	0.001
Serum uric acid (μmol/L)	364.99 ± 139.47	323.35 ± 111.34	303.17 ± 133.22	0.142
CysC (mg/L)	1.44 (0.89–3.71)	0.92 (0.71–1.37)a	0.66 (0.53–1.23)a	<0.001
GFR (ml/min)	39.02 (18.81–83.89)	79.13 (55.85–108.75)a	102.72 (72.80–126.90)a	<0.001
Urine protein quantity (g/24 h)	0.19 (0.07–0.70)	0.19 (0.00–1.43)	0.15 (0.00–0.60)	0.845
Kidney volume (mm3)	846.64 (421.27–1217.30)	269.61 (193.17–742.87)a	188.19 (113.68–353.69)a	0.004

BMI, Body Mass Index; eGFR, estimated Glomerular Filtration Rate.

^aP < 0.05 compared with group with pathogenic mutation.