A young girl with recurrent calculosis and hypercalcemia

F. Di Maio, M. Vittori, P. Bassi, P. Fulignati, S. D'Alonzo, P. M. Ferraro

Research output: Contribution to journalArticlepeer-review


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.
Original languageItalian
Pages (from-to)10
Number of pages1
JournalGiornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
Issue number3
Publication statusPublished - May 1 2018

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