Mutations of the CYP24A1 gene are associated with alterations in the activity of the enzyme 25-OH-D-24-hydroxylase, resulting in dysfunction of the metabolism of vitamin D. This enzymatic deficiency may cause hypercalcemia, low parathyroid hormone levels, hypercalciuria, nephrolithiasis and nephrocalcinosis. The clinical case of a young woman with recurrent renal lithiasis, hypercalcemia and hypercalciuria is described. These features are linked to deficiency of the enzyme 25-OH-D-24-hydroxylase, therefore to a biallelic mutation of the CYP24A1 gene.
Di Maio, F., Vittori, M., Bassi, P., Fulignati, P., D'Alonzo, S., Ferraro, P. M., A young girl with recurrent calculosis and hypercalcemia, <<GIORNALE ITALIANO DI NEFROLOGIA>>, 2018; 35 (3): N/A-N/A [http://hdl.handle.net/10807/181299]
A young girl with recurrent calculosis and hypercalcemia
Bassi, Pierfrancesco;Fulignati, Pierluigi;D'Alonzo, Silvia;Ferraro, Pietro Manuel
2018
Abstract
Mutations of the CYP24A1 gene are associated with alterations in the activity of the enzyme 25-OH-D-24-hydroxylase, resulting in dysfunction of the metabolism of vitamin D. This enzymatic deficiency may cause hypercalcemia, low parathyroid hormone levels, hypercalciuria, nephrolithiasis and nephrocalcinosis. The clinical case of a young woman with recurrent renal lithiasis, hypercalcemia and hypercalciuria is described. These features are linked to deficiency of the enzyme 25-OH-D-24-hydroxylase, therefore to a biallelic mutation of the CYP24A1 gene.
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