Table 1 Relevant abnormalities in laboratory investigations

Urea nitrogen (mmol/L)

13.1~ 15.4

2.86–7.14

Creatinine (umol/L)

83.5~ 90.0

28.3 ± 6.2

Parathyroid Hormone (g/ml)

135.8

12.0–88.0

Blood CO₂ level (mmol/L)

16.2

23–31

Renal ultrasonography (mm × mm)

Left: 53 × 21;

Right: 49 × 25

Left:(65.5–73.5) × (32.7–36.9);

Right:(60.7–68.3) × (32.3–35.7)

99mTc—DTPA

Whole: 45.42 ml/min:

Right: 23.28 ml/min; left: 22.14 ml/min

Gene study

heterozygous mutation point in PAX2

c.418C > G (cytosine > guanine) chr10:102539262

p.R140G (arginine > glycine)