A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass

Pietro Manuel Ferraro; Angelo Minucci; Aniello Primiano; Elisa De Paolis; Jacopo Gervasoni; Silvia Persichilli; Alessandro Naticchia; Ettore Domenico Capoluongo; Giovanni Gambaro

doi:10.1007/s00240-016-0923-4

A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass

Pietro Manuel Ferraro, Angelo Minucci, Aniello Primiano, Elisa De Paolis, Jacopo Gervasoni, Silvia Persichilli, Alessandro Naticchia, Ettore Domenico Capoluongo, Giovanni Gambaro

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11 Citations (Scopus)

Abstract

Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Genetic CYP24A1 testing and biochemical analyses were offered to other family members; the father was heterozygous for the same novel genotype and was also affected with recurrent nephrolithiasis.

Original language	English
Pages (from-to)	291-294
Number of pages	4
Journal	Urolithiasis
Volume	45
DOIs	https://doi.org/10.1007/s00240-016-0923-4
Publication status	Published - 2018

Keywords

Genetics
Hypercalciuria
Osteoporosis
Urolithiasis
Urology
Vitamin D

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10.1007/s00240-016-0923-4

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title = "A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass",

abstract = "Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Genetic CYP24A1 testing and biochemical analyses were offered to other family members; the father was heterozygous for the same novel genotype and was also affected with recurrent nephrolithiasis.",

keywords = "Genetics, Hypercalciuria, Osteoporosis, Urolithiasis, Urology, Vitamin D, Genetics, Hypercalciuria, Osteoporosis, Urolithiasis, Urology, Vitamin D",

author = "Ferraro, {Pietro Manuel} and Angelo Minucci and Aniello Primiano and {De Paolis}, Elisa and Jacopo Gervasoni and Silvia Persichilli and Alessandro Naticchia and Capoluongo, {Ettore Domenico} and Giovanni Gambaro",

year = "2018",

doi = "10.1007/s00240-016-0923-4",

language = "English",

volume = "45",

pages = "291--294",

journal = "Urolithiasis",

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publisher = "Heidelberg ; Berlin : Springer",

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T1 - A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass

AU - Ferraro, Pietro Manuel

AU - Minucci, Angelo

AU - Primiano, Aniello

AU - De Paolis, Elisa

AU - Gervasoni, Jacopo

AU - Persichilli, Silvia

AU - Naticchia, Alessandro

AU - Capoluongo, Ettore Domenico

AU - Gambaro, Giovanni

PY - 2018

Y1 - 2018

N2 - Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Genetic CYP24A1 testing and biochemical analyses were offered to other family members; the father was heterozygous for the same novel genotype and was also affected with recurrent nephrolithiasis.

AB - Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Genetic CYP24A1 testing and biochemical analyses were offered to other family members; the father was heterozygous for the same novel genotype and was also affected with recurrent nephrolithiasis.

KW - Genetics

KW - Hypercalciuria

KW - Osteoporosis

KW - Urolithiasis

KW - Urology

KW - Vitamin D

KW - Genetics

KW - Hypercalciuria

KW - Osteoporosis

KW - Urolithiasis

KW - Urology

KW - Vitamin D

UR - http://hdl.handle.net/10807/93209

UR - http://link.springer.com/journal/240

U2 - 10.1007/s00240-016-0923-4

DO - 10.1007/s00240-016-0923-4

M3 - Article

SN - 2194-7228

VL - 45

SP - 291

EP - 294

JO - Urolithiasis

JF - Urolithiasis

ER -

A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass

Abstract

Keywords

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