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Table 1 Laboratory analyses for family XLH01 at their initial visit

From: Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia

Indexes

Normal Range

XLH01-I:2

XLH01-II:1

XLH01-II:2

Age (years)

41

8

10

Sex

Female

Male

Male

TmP/GFR (mg/dL)

2.2–3.6; 2.9–6.5

0.43

0.85

0.92

Serum ALP (U/L)

40–110

69

337

589

Serum iPTH (pg/mL)

14–72

65.3

43.8

45.4

Serum 25-hydroxyvitamin D3 (nmol/L)

5–200

65

105

95

Serum 1, 25-dihydroxyvitamin D3 (pmol/L)

60–108

75

85

88

Serum calcium (mmol/L)

2.1–2.6; 2.25–2.8

2.36

2.38

2.38

Serum potassium (mmol/L)

3.5–5.5

0.79

0.91

0.92

Serum sodium (mmol/L)

135–145

140

140

144

Serum chloride (mmol/L)

96–106

102

102

97

Serum phosphonium (mmol/L)

1.0–1.6; 1.3–1.9

0.79

0.91

0.92

Serum magnesium (mmol/L)

0.7–1.1

1.10

0.84

0.72

Urine amino-acids*

(−)

(−)

(−)

(−)

Urine glucose*

(−)

(−)

(−)

(−)

Urine protein*

(−)

(−)

(−)

(−)

  1. ALP Alkaline phosphatase, iPTH intact-parathyroid hormone and TmP/GFR tubular resorption of phosphate corrected for glomerular filtration rate.
  2. * Qualitative test; for adult; for child; (−) negative.