An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report
CYP24A1 is an enzyme that inactivates vitamin D and encodes vitamin D 24-hydroxylase. Mutations in this enzyme have been linked with idiopathic infantile hypercalcemia, nephrolithiasis, and nephrocalcinosis. Genetic testing for this mutation should be considered in the presence of calciuria, elev...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Sestre Milosrdnice University hospital, Institute of Clinical Medical Research
2021-01-01
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| Series: | Acta Clinica Croatica |
| Subjects: | |
| Online Access: | https://hrcak.srce.hr/file/393820 |