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Table 1 Investigation results at the time of presentation

From: A novel likely pathogenic CLCN5 variant in Dent’s disease

Test

1st index case

Brother

Nephew

2nd index case

Adult reference range

Serum creatinine (umol/L)

1026

257

163

39

59 - 104

Blood urea nitrogen (mmol/L)

26.4

12.6

6.1

3.9

2.5 – 7.8

Serum phosphate (mmol/L)

1.17

0.85

0.69

1.5

0.8 – 1.5

Serum adjusted calcium (mmol/L)

1.73

2.45

2.42

2.53

2.2 – 2.6

Serum parathyroid hormone (pmol/L)

68.7

3.7

2.2

0.8

1.6 – 6.9

Urinalysis

Blood 2+

Protein 1+

Blood 1+

Protein 1+ Glucose 1+

Blood 4+

Protein 1+

Glucose 2+

Protein 3+

N/A

Urine protein: creatinine ratio (mg/mmol)

256

164

94

250

< 50

Urine phosphate (mmol/sample)

2.4

Not performed

15.6

Not performed

15.0 – 50.0

Urine calcium (mmol/sample)

0.2

Not performed

5.2

0.93a

2.5 – 7.5a

Urine sodium (mmol/sample)

17

Not performed

184

80

50 – 200

Urine oxalate (mmol/sample)

86

Not performed

277

Not performed

100 – 460

Blood pressure (mm/Hg)

140/90

138/80

102/60

91/57

N/A

  1. aPaediatric reference range for urinary calcium < 0.7 mmol/sample.