A young girl with recurrent calculosis and hypercalcemia

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

doi:2018-vol3 [pii]

A young girl with recurrent calculosis and hypercalcemia

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

IRCCS Fondazione Policlinico Universitario A. Gemelli

Research output: Contribution to journal › Article › peer-review

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
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	https://doi.org/2018-vol3 [pii]
Publication status	Published - May 1 2018

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2018-vol3 [pii]

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title = "A young girl with recurrent calculosis and hypercalcemia",

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.",

author = "Maio, {F. Di} and M. Vittori and P. Bassi and P. Fulignati and S. D'Alonzo and Ferraro, {P. M.}",

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T1 - A young girl with recurrent calculosis and hypercalcemia

AU - Maio, F. Di

AU - Vittori, M.

AU - Bassi, P.

AU - Fulignati, P.

AU - D'Alonzo, S.

AU - Ferraro, P. M.

N1 - LR: 20180522; CI: Copyright by Societa Italiana di Nefrologia SIN, Rome, Italy.; JID: 9426434; OTO: NOTNLM; 2018/05/23 06:00 [entrez]; 2018/05/23 06:00 [pubmed]; 2018/05/23 06:00 [medline]; ppublish

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N2 - 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.

AB - 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.

U2 - 2018-vol3 [pii]

DO - 2018-vol3 [pii]

M3 - Articolo

VL - 35

SP - 10

JO - Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia

JF - Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia

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