A young girl with recurrent calculosis and hypercalcemia

Translated title of the contribution: [Autom. eng. transl.] A young girl with recurrent calculosis and hypercalcemia

Pierfrancesco Bassi, Pietro Manuel Ferraro, Pierluigi Fulignati, Silvia D'Alonzo

Research output: Contribution to journalArticle

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.
Translated title of the contribution[Autom. eng. transl.] A young girl with recurrent calculosis and hypercalcemia
Original languageItalian
Pages (from-to)N/A-N/A
JournalGIORNALE ITALIANO DI NEFROLOGIA
Volume35
Publication statusPublished - 2018

Keywords

  • 25-OH-D-24-hydroxylase
  • nephrolithiasis
  • hypercalcemia
  • CYP24A1

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