A young girl with recurrent calculosis and hypercalcemia

Federica Di Maio; Matteo Vittori; Pierfrancesco Bassi; Pierluigi Fulignati; Silvia D'Alonzo; Pietro Manuel Ferraro

A young girl with recurrent calculosis and hypercalcemia

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

Federica Di Maio, Matteo Vittori, Pierfrancesco Bassi, Pierluigi Fulignati, Silvia D'Alonzo, Pietro Manuel Ferraro

Research output: Contribution to journal › Article

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 language	Italian
Pages (from-to)	N/A-N/A
Journal	GIORNALE ITALIANO DI NEFROLOGIA
Volume	35
Publication status	Published - 2018

Keywords

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

Cite this

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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.",

keywords = "25-OH-D-24-hydroxylase, CYP24A1, hypercalcemia, nephrolithiasis, 25-OH-D-24-hydroxylase, CYP24A1, hypercalcemia, nephrolithiasis",

author = "{Di Maio}, Federica and Matteo Vittori and Pierfrancesco Bassi and Pierluigi Fulignati and Silvia D'Alonzo and Ferraro, {Pietro Manuel}",

year = "2018",

language = "Italian",

volume = "35",

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TY - JOUR

T1 - A young girl with recurrent calculosis and hypercalcemia

AU - Di Maio, Federica

AU - Vittori, Matteo

AU - Bassi, Pierfrancesco

AU - Fulignati, Pierluigi

AU - D'Alonzo, Silvia

AU - Ferraro, Pietro Manuel

PY - 2018

Y1 - 2018

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.

KW - 25-OH-D-24-hydroxylase

KW - CYP24A1

KW - hypercalcemia

KW - nephrolithiasis

KW - 25-OH-D-24-hydroxylase

KW - CYP24A1

KW - hypercalcemia

KW - nephrolithiasis

UR - http://hdl.handle.net/10807/181299

M3 - Articolo in rivista

SN - 0393-5590

VL - 35

SP - N/A-N/A

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

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

ER -

A young girl with recurrent calculosis and hypercalcemia

Abstract

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