A Case Report of Compound Heterozygous CYP24A1 Mutations Leading to Nephrolithiasis Successfully Treated with Ketoconazole
CYP24A1 is an enzyme that inactivates vitamin D. Loss-of-function mutations in this enzyme are rare but have been linked with idiopathic infantile hypercalcemia as well as adult-onset nephrocalcinosis and nephrolithiasis. Genetic testing for this mutation should be considered in the presence of calc...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2017-12-01
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| Series: | Case Reports in Nephrology and Dialysis |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/485243 |