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Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report

Lookup NU author(s): Sumaya Alkanderi, Professor John Sayer



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.

Publication metadata

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


DOI: 10.1159/000500922

PubMed id: 31288237


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