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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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S. Karger AG
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803692/ https://www.ncbi.nlm.nih.gov/pubmed/29457022 http://dx.doi.org/10.1159/000485243 |