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Table 1 Biochemical findings of the two patients during the first and the last hospitalization

From: Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation

Laboratory test

Patient 1

Patient 2

Normal values

Initial values age 17 months

Last values age 6 year

Initial values age 5 months

Last values age 8 months

Serum Ca (mg/dl)

9.8

9.8

9.8

9.8

9–11

Serum PO4

2.3 mg/dl

3.8 mg/dl

1.3 mg/dl

1.7 mg/dl

1 month–2 year: 3.8–6.5 g/dl

3–9 year: 3.2–5.8 mg/dl

Serum alkaline phosphatase (U/l)

666

206

1200

1178

150–420

Parathyroid hormone (ng/l)

47

49

13

83

10–65

Vitamin D3 (pg/ml)

25 

 

24 

27 

16–65 

Serum triglyceride (mg/dl)

761

187

1200

254

27–125

Serum cholesterol (mg/dl)

210

186

400

153

<170

Aspartate aminotransferase (U/l)

49

37

140

117

9–80

Alanine aminotransferase (U/l)

76

32

61

56

13–46

Random blood sugar (mg/dl)

120

135

102

88

<126

Serum uric acid (mg/dl)

1.5 

 

1.5 

1.1 

2.2–6.6 

Venous pH

7.32

7.42

7.25

7.30

7.35–7.45

HCO3 (mEq/l)

17

22

13

14

18–24

TRP (%)

59

69

32

33

>85

Urine calcium excretion (mg/kg/day)

7.4 

5.6 

3.2 

 

<4 

Glomerular filtration rate (ml/min/1.73 m2)

83 

226 

13 

98 

49–165 

Urine protein excretion (mg/m2/h)

64

18.8

42

44

 <4

Urine glucose excretion (g/24 h)

 

25.7 

1.8 

4.5