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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

11 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)291-294
Numero di pagine4
RivistaUrolithiasis
Volume45
DOI
Stato di pubblicazionePubblicato - 2018

Keywords

  • Genetics
  • Hypercalciuria
  • Osteoporosis
  • Urolithiasis
  • Urology
  • Vitamin D

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