Abstract
ABSTRACT
 CYP24A1 homozygous gene mutation is a well-known cause of infantile hypercalcemia and adult onset hypercalcemia/nephrocalcinosis. A mutation in this gene causes the loss of function of 24 hydroxylase enzyme that is essential for the catabolism of vitamin D metabolites.
 We describe a rare case of a 35 -year-old man with recurrent nephrolithiasis carrying two heterozygous variants of the CYP24A1 gene. He had recurrent nephrolithiasis as adult without hypercalcemia as child. He has strong family history of kidney stones. Biochemical work up showed hypercalcemia, hypercalciuria, high 1,25-dihydroxyvitamin D and low parathyroid hormone level. Hypercalciuria and recurrent nephrolithiasis resolved with thiazide diuretic without worsening in serum hypercalcemia.
 CYP24A1 inactivation mutations should be suspected in adults with personal and family history of recurrent nephrolithiasis if they present with non PTH-mediated hypercalcemia and/or hypercalciuria and elevated 1,25-dihydroxyvitamin D level even without a history of hypercalcemia during childhood. Thiazide diuretic may be used for its management safely.
Highlights
Case PresentationThe prevalence of vitamin D-mediated hypercalcemia is unknown, but currently increasing due to increase in vitamin D supplementation and increase detection of cytochrome P450 24A1 (CYP24A1) mutations [1]
CYP24A1 inactivation mutations should be suspected in adults with personal and family history of recurrent nephrolithiasis if they present with non parathyroid hormone (PTH)-mediated hypercalcemia and/or hypercalciuria and elevated 1,25-dihydroxyvitamin D level even without a history of hypercalcemia during childhood
We present a patient with recurrent nephrolithiasis with hypercalciuria and elevated 1,25-dihydroxyvitamin 25-hydroxyvitamin D3 (D3) (1,25-(OH)2D3) level without a history of hypercalcemia nor nephrolithiasis during childhood associated with two variants of heterozygous CYP24A1 mutations
Summary
Case PresentationThe prevalence of vitamin D-mediated hypercalcemia is unknown, but currently increasing due to increase in vitamin D supplementation and increase detection of cytochrome P450 24A1 (CYP24A1) mutations [1]. CYP24A1 inactivation mutations should be suspected in adults with personal and family history of recurrent nephrolithiasis if they present with non PTH-mediated hypercalcemia and/or hypercalciuria and elevated 1,25-dihydroxyvitamin D level even without a history of hypercalcemia during childhood. We present a patient with recurrent nephrolithiasis with hypercalciuria and elevated 1,25-dihydroxyvitamin D3 (1,25-(OH)2D3) level without a history of hypercalcemia nor nephrolithiasis during childhood associated with two variants of heterozygous CYP24A1 mutations.
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