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.
Original language | Italian |
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Pages (from-to) | 10 |
Number of pages | 1 |
Journal | Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia |
Volume | 35 |
Issue number | 3 |
DOIs | |
Publication status | Published - May 1 2018 |