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Table 1 Abnormal laboratory data at presentation

From: A case report of NPHP1 deletion in Chinese twins with nephronophthisis

Parameters

Proband

Affected Sib

Reference range

Blood routine tests

 WBC,109/L

2.98↓

3.27↓

3.5–9.5

 HGB,g/L

80↓

83↓

115–150

 Platelet count,109/L

100↓

107↓

125–350

 RBC,1012/L

2.81↓

2.92↓

3.8–5.1

Urine routine tests

 Specific gravity

1.010↓

1.010↓

1.015–1.030

Serum chemistry

 Serum creatinine,μmol/L

243↑

234.4↑

45–105

 Serum uric acid,μmol/L

463.1↑

443.1↑

140–420

Cystatin-C,mg/L

2.66↑

2.98↑

0–1.16

 PTH,pg/ml

724.1↑

469.4↑

12–65

  1. Blood values in result column indicate the abnormaldetected valued out of the reference range