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Table 1 Laboratory values of two patients with OCRL syndrome

From: Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

Clinical parameter

Case 1

Case 2

Normal range

Urine

pH

7.5

6.5

4.5–8.0

Glucose (quantitative)

Occasionally positive

Negative

Negative

Calcium (mmol/kg/24 h)

0.19

0.388

< 0.1

Phosphorus (mmol/kg/24 h)

0.87

0.52

0.5–0.6

Protein (mg/24 h)

624.7

226.4

 ≤ 140

β2-microglobulin (mg/L)

65.72

 > 80

 < 0.2

Blood

HCO3- (mmol/L)

15.6

17.7

22.0–29.0

Calcium (mmol/L)

2.34

2.60

2.2–2.7

Phosphorus (mmol/L)

1.53

1.70

1.05–1.8

Creatinine kinase (U/L)

274

62

 ≤ 190

Lactate dehydrogenase (U/L)

455

382

120–300

25 (OH) vitamin D (ng/mL)

29.4

26.9

 ≥ 30

Urea (mmol/L)

4.28

2.00

1.7–8.3

Serum creatinine (μmol/L)

22

22

59–104

Uric acid (μmol/L)

183.4

162.0

202.3–416.5