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Table 1 Results of serum and urine laboratory investigations in various measurements in the index patient

From: Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

Laboratory values

Observed values (range)

Normal values

Hematocrit (%)

46–52

42–49

Serum Sodium (mEq/L)

145–149

140–145

Serum Potassium (mEq/L)

3.2–3.6

3.5–4.6

Serum cCalcium (mg/dL)

10.4–11.3

8.2–10.5

Serum Phosphorous (mg/dL)

2.1–2.6

2.5–4.2

Serum Parathormone (pg/mL)

23

10–65

Arterial pH

7.43–7.55

7.35–7.45

Arterial HCO3 (mEq/L)

27–40

24–25

Serum Creatinine (mg/dl)

0.7

0.6–1.2

Urine Sodium (mEq/day)

224

 

Urine Potassium (mEq/day)

109

 

Urine Chloride (mEq/day)

200

 

Urine Calcium (mg/day)

347

< 250

Urine Calcium/body weight (mg/day/kg)

7

< 4

Urine Phosphorous (mg/day)

476

 

Urine Uric acid (mg/day)

1472

< 750

Urine protein (mg/day)

700–1500

< 250

Urine Oxalate (mg/day)

92

7–44

Urine b2-microglobulin (mg/l)

0.48–0.98

< 0.2

Urine FE phosphorous (%)

14–24

< 15

Urine FE HCO3 (%)

1.7%

 

TmP/GFR (mg/dL)

1.8–2.5

2.5–4.5

25(ΟΗ) Vit-D (ng/ml)

8

10–60

1,25(ΟΗ)2 Vit-D (pg/ml)

64

18–62

Urine cAMP (nmol/dl)

0.9

1.6–6.2

Serum renin (mIU/l)

275

5–47

Serum aldosterone (pmol/L)

669

20–130