Case Reports in Endocrinology / 2019 / Article / Tab 2

Case Report

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.1I.2II.1II.2

Age (years)52532620
History of nephrolithiasisNoNoYesNo
Total calcium (mg/dL)109.89.99.8
Ionized calcium (mmol/L)1.281.231.291.26
Phosphate (mg/dL)3.62.93.93.1
PTH (pg/mL)1718118
25 hydroxyvitamin D (ng/mL)7.817.328.422.5
1,25- dihydroxyvitamin D (pg/mL)39377266

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.

We are committed to sharing findings related to COVID-19 as quickly and safely as possible. Any author submitting a COVID-19 paper should notify us at help@hindawi.com to ensure their research is fast-tracked and made available on a preprint server as soon as possible. We will be providing unlimited waivers of publication charges for accepted articles related to COVID-19. Sign up here as a reviewer to help fast-track new submissions.