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- Title
A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.
- Authors
Ferraro, Pietro; Minucci, Angelo; Primiano, Aniello; De Paolis, Elisa; Gervasoni, Jacopo; Persichilli, Silvia; Naticchia, Alessandro; Capoluongo, Ettore; Gambaro, Giovanni
- 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.
- Subjects
GENOTYPES; HYPERCALCEMIA; KIDNEY stones; PARATHYROID hormone; DISEASE relapse
- Publication
Urolithiasis, 2017, Vol 45, Issue 3, p291
- ISSN
2194-7228
- Publication type
Article
- DOI
10.1007/s00240-016-0923-4