Skip to main content

Table 1 Summary of the clinical and laboratory investigations follow up

From: Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report

Age (months)

18

20

22

26

29

34

40

46

51

54

57

Weight (kg)

6.2

6.5

6.5

8.2

8.6

7.9

8.9

8.6

9.4

9.9

10.9

Weight for age Z-score (SD)

−4.84

−4.84

−4.91

−3.80

−3.70

−4.56

−4.17

−4.67

−4.37

−4.05

−3.60

Length/height (cm)

62.5

64

65

  

68.5

71

72

72.5

74.5

76.5

Height for age Z-score (SD)

−6.18

−6.04

−6.04

  

−6.97

−6.91

−7.05

−7.24

−7.22

−7.12

Serum calcium (mmol) (NR 2.25–2.75)

 

2.63

2.65

2.26

2.38

2.51

2.48

2.42

2.31

2.46

2.08

Serum phosphorus (mmol) (NR 1.0–1.95)

1.58

0.78

1.5

1.49

1.28

0.85

0.77

1.13

0.76

1.2

1.12

Parathyroid hormone (pg/ml) (NR 15–65)

169.9

62.27

       

55

 

Alkaline phosphatase (U/L) (NR up to 300 IU/L)

539

417

403

376

637

499

307

240

319

434

400

Bicarbonate (HCO3) (mmol) (NR 22–29)

       

22.6

23.0

 

22.0

Diagnosis

Hypophosphatemic rickets

H

H

H

H

H

H

FBS

FBS

FBS

FBS

Medication

Calcitriol oral phosphorus

X

X

X

X

X

X

Calcitriol oral phosphorus HCO3

Y

Y

Y

Dietary therapy

Normal (N)

N

N

N

N

N

N

Galactose-restriction

G

G

G

  1. FBS Fanconi–Bickel syndrome, G galactose-restricted diet, H hypophosphatemic rickets, HCO3 bicarbonate, N normal non-modified diet, NR normal range, X represents the medications calcitriol and orally administered phosphorus, Y represents medications calcitriol, orally administered phosphorus and orally administered bicarbonate