Table 1 Clinical data of patient

Age

1 y

1 y 9 mo

2 y 10 mo

3 y 11 mo

Weight, kg (‰)

6 (< 3)

7 (< 3)

11.4 (3)

13 (10)

Height, сm (‰)

68 (< 3)

74 (< 3)

84 (3)

91 (3)

Urine output, l/m² (N < 2.0)

7.3

8.2

4.8

4.5

pH (N 7.35–7.45)

7.3

7.35

7.44

7.41

HCO₃⁻, mmol/l (N 22–26)

15.1

21.2

26

25

Sodium, mmol/l (N 135–147)

131

135

133

139

Potassium, mmol/l (N 3.7–5.1)

2.4

3.5

3.6

2.9

Chloride, mmol/l (N 97–115)

81

99

100

98

Phosphorus, mmol/l (N 1.3–2.2)

0.53

1.24

1.3

1.11

Alkaline phosphatase, IU/l (N < 644)

903

711

390

1097

Thyroid-stimulating hormone, mIU/ml (N 0.34–5.6)

5.8

5.4

5.2

4.7

WBC cystine, nmol half-cystine/mg protein (N < 1.0)

3.5

1.67

0.08

eGFR, ml/min/1.73 m²

77.5

54

69.7

69.2

Calcium/creatinine ratio, mmol/mmol (N < 1.5)

0.9

2.2

3.3

2.5

TmP/GFR, mmol/mmol

(N 1.15–2.44)

0.3

0.4

0.9

0.8

Tubular urate excretion, % (N < 10%)

30

52

59

39

Tubular potassium excretion, % (N < 10%)

20

67

38

45

Tubular sodium excretion, % (N < 1%)

1.4

1.2

1.4

1.1