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, P.;Fulignati, P.;D'Alonzo, S.;Ferraro, P. M.
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.
Italiano
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]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/181299
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 1
  • ???jsp.display-item.citation.isi??? ND
social impact