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17.09.2016 | Original Paper

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

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

Erschienen in: Urolithiasis | Ausgabe 3/2017

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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.

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Titel: A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass
verfasst von: Pietro Manuel Ferraro
Angelo Minucci
Aniello Primiano
Elisa De Paolis
Jacopo Gervasoni
Silvia Persichilli
Alessandro Naticchia
Ettore Capoluongo
Giovanni Gambaro
Publikationsdatum: 17.09.2016
Verlag: Springer Berlin Heidelberg
Erschienen in: Urolithiasis / Ausgabe 3/2017
Print ISSN: 2194-7228
Elektronische ISSN: 2194-7236
DOI: https://doi.org/10.1007/s00240-016-0923-4

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

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