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Table 1 Biological characteristics

From: When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

 

12 months

14 months

18 months

40 months

Plasma [normes at age]

    

Creatinine (µmol/l) [15–37]

34

25

21

31

CO2 total (mmol/l) [19–24]

17

15

17

24

Potassium (mmol/l) [3.1–4.7]

4.8

4.7

4.2

4

Sodium (mmol/l) [133–140]

137

139

134

141

Magnesium (mmol/l) [0.6–1.3]

  

0.79

 

Chloride (mmol/l) [95–105]

100

100

96

105

Total calcium (mmol/l) [2.20–2.83]

2.54

2.73

2.52

2.54

Ion calcium (mmol/l) [1.22–1.40]

    

Phosphate (mmol/l) [1.55–2.39]

1.27

1.4

1.15

1.52

PTH (ng/L) [7–31]

 

 < 4

7

8

25 OH-vitamin D (ng/ml) [50–80]

 

62

72

63

1,25(OH)2-vitamin D (pg/l) [30–150]

  

200

165

Urine

    

Calcium/creatinin (mmol/l/mmol/l) [< 1.1]

  

1.16

 

Sodium (mmol/l)

  

37

 

Phosphate (mmol/l)

  

11.4

 

TRPh (%)

  

88

 
  1. Abnormal values evocative of IH phenotype in bold