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...

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Bibliographic Details
Published in:Case reports in nephrology and dialysis 2017-12, Vol.7 (3), p.167-171
Main Authors: Davidson Peiris, Emma, Wusirika, Raghav
Format: Article
Language:English
Subjects:
1,25-Dihydroxyvitamin D
Antifungal agents
Case Report
Case reports
CYP24A1
Enzymes
Hypercalciuria
Intellectual property
Mutation
Nephrolithiasis
Patients
Sarcoidosis
Testosterone
Vitamin D
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Summary: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 calciuria, elevated serum calcium, elevated 1,25-dihydroxyvitamin D, and suppressed parathyroid hormone. We present a case with these lab findings as well as an elevated 25-hydroxyvitamin D/24,25-dihydroxyvitamin D ratio in whom compound heterozygous CYP24A1 mutations were found. His hypercalciuria resolved and 1,25-vitamin D level improved with ketoconazole treatment. We suggest that it is clinically important to identify patients with this phenotype as testing and treatment options are available which could reduce progression to chronic kidney disease in this population.
ISSN:2296-9705
2296-9705
DOI:10.1159/000485243