Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature

Table 2

Clinical and biochemical findings in the patient’s first degree family members.

	I.1	I.2	II.1	II.2
Age (years)	52	53	26	20
History of nephrolithiasis	No	No	Yes	No
Total calcium (mg/dL)	10	9.8	9.9	9.8
Ionized calcium (mmol/L)	1.28	1.23	1.29	1.26
Phosphate (mg/dL)	3.6	2.9	3.9	3.1
PTH (pg/mL)	17	18	11	8
25 hydroxyvitamin D (ng/mL)	7.8	17.3	28.4	22.5
1,25- dihydroxyvitamin D (pg/mL)	39	37	72	66

The reported values are the mean of two independent samples collected in two consecutive days. For family member identification see Figure 1(b). See Table 1 for the normal adult reference range at our laboratory and details about 25(OH)D and 1,25(OH)₂D assays.