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Lookup NU author(s): Sumaya Alkanderi, Professor John SayerORCiD
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
© 2019 The Author(s) Published by S. Karger AG, Basel.Background/Aims: The CYP24A1 gene encodes the vitamin D 24-hydroxylase enzyme, which hydroxylates active forms of vitamin D into inactive forms. Biallelic mutations in the CYP24A1 gene can lead to elevated levels of active vitamin D metabolites and, consequently, to hypercalcemia, hypercalciuria, nephrocalcinosis, and nephrolithiasis; however, monoallelic mutations have been associated only with milder phenotypes. In the present manuscript, we report the case of a young male patient who presented hypercalcemia and nephrolithiasis, suppressed parathormone, and elevated 1,25 dihydroxy vitamin D levels. Methods: Biochemical analyses were performed on Cobas 8000, F. Hoffmann-La Roche AG, Basel, Switzerland. The proband was initially evaluated for occult malignancies by body imaging, serum electrophoresis, and tumor markers, which did not reveal any pathology. DNA samples of the proband and his sibling were then examined using Sanger sequencing. Results: Genetic analysis revealed 2 compound heterozygous CYP24A1 mutations (p.L148P and p.R223∗). The novel nonsense CYP24A1 mutation, p.R223∗, was also found heterozygously in other family members with a medical history of nephrolithiasis. Conclusions: The identification of this gene mutation causing hypercalcemia, hypercalciuria, and renal stones allows the specific management of endogenous vitamin D production.
Author(s): Jirackova J, Hyspler R, Alkanderi S, Pavlikova L, Palicka V, Sayer JA
Publication type: Article
Publication status: Published
Journal: Kidney and Blood Pressure Research
Year: 2019
Volume: 44
Issue: 4
Pages: 870-877
Print publication date: 01/08/2019
Online publication date: 09/07/2019
Acceptance date: 10/05/2019
Date deposited: 18/09/2019
ISSN (print): 1420-4096
ISSN (electronic): 1423-0143
Publisher: S. Karger AG
URL: https://doi.org/10.1159/000500922
DOI: 10.1159/000500922
PubMed id: 31288237
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