Case Reports in Endocrinology / 2019 / Article / Tab 1

Case Report

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

Table 1

Clinical and biochemical data at admission to our clinic.

AnalyteResultNormal adult  
reference range

Total calcium (mg/dL)10.58.6-10.2
Ionized calcium (mmol/L)1.35-1.36-1.451.13-1.32
Phospate (mg/dL)3.12.7-4.5
Magnesium (mg/dL)2.021.7-2.2
Albumin (g/dL)4.63.6-5.2
PTH (pg/mL)< 4-78-40
Calcitonin (pg/mL)< 2< 11.5
25-hydroxy vitamin D (ng/mL) §30.3
1,25-dihydroxyvitamin D (pg/mL) 10720-67
Osteocalcin (ng/mL)61.66.8-34
Bone-specific alcaline phophatase (mcg/L)232-20
Carboxy-terminal collagen crosslinks (ng/mL)1.0420.112-0.738
Urine calcium (mg/24h)150-410-455100-321
Urine phosphates (mg/24h)697-875400-1300
Urine magnesium (mg/24h)140-16460-120
Creatinine (mg/dL)0.69-0.720.5-0.9
Urine creatinine (mg/24h)1050-1085-1148740-1570
Angiotensin converting enzyme (U/L)8065.8-114.4

When available, repeated measures are reported
§: 25(OH)D was assayed at University of Pisa laboratory as total 25(OH)D (i.e. the sum of 25(OH)D2 + 25(OH)D3) using a chemiluminescence immunoassay (IDS-iSYS, Immunodiagnostic systems, Boldon, Tyne and Wear, UK)
: 1,25(OH)2D was assayed at University of Pisa laboratory as total 1,25(OH)2D (i.e. the sum of 1,25(OH)2D2 + 1,25(OH)2D3) using a radioimmunoassay (IDS, Immunodiagnostic systems, Boldon, Tyne and Wear, UK)

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