Hypocitraturia Contributing to Nephrolithiasis in a Patient with CYP24A1 Gene Mutation

Mohamed K.M. Shakir*, Ibrahim al-Jabbar, Thanh D. Hoang, Terry Shin, Vinh Q. Mai

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Objective: There have been several case reports of hypercalcemia due to mutation in CYP24A1, which encodes an enzyme that controls the catabolism of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D to inactive forms. These patients develop nephrolithiasis, nephrocalcinosis, and eventually renal insufficiency. We describe a patient with hypercalcemia and nephrolithiasis due to CYP24A1 mutation with other co-existing factors for renal stone formation. Methods: A literature search was conducted using the PubMed and Google Scholar databases for CYP24A1 mutation and hypercalcemia. Publications were selected based the quality of the data and clinical relevance. Results: CYP24A1 mutation may lead to hypercalcemia, hypercalciuria, and renal stone formation; however, other risk factors for renal stone formation such as urinary citrate, sodium, oxalate, and uric acid levels need to be evaluated. Conclusions: This case highlights the need to evaluate for other renal stone risk factors in patients with CYP24A1 mutation.

Original languageEnglish
Pages (from-to)e312-e315
JournalAACE Clinical Case Reports
Issue number4
StatePublished - 1 Jul 2018
Externally publishedYes


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