A Case Report of Compound Heterozygous CYP24A1 Mutations Leading to Nephrolithiasis Successfully Treated with Ketoconazole

Emma Davidson Peiris, Raghav Wusirika

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)167-171
Number of pages5
JournalCase Reports in Nephrology and Dialysis
DOIs
StateAccepted/In press - Dec 18 2017

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Nephrolithiasis
Ketoconazole
Vitamin D
Mutation
Nephrocalcinosis
Hypercalciuria
Dihydroxycholecalciferols
Genetic Testing
Enzymes
Parathyroid Hormone
Chronic Renal Insufficiency
Calcium
Phenotype
Therapeutics
Serum
Population
Vitamin D3 24-Hydroxylase

Keywords

  • 1,25-Dihydroxyvitamin D
  • CYP24A1
  • Hypercalciuria
  • Nephrolithiasis

ASJC Scopus subject areas

  • Nephrology

Cite this

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abstract = "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.",
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