Coexistent CYP24A1 and PHEX Gene Mutations With Hypervitaminosis D Plus Hypercalcemia Treated With Fluconazole

Bawden, David, Fraser, William, Green, Darrell and Rehman, Shoib Ur (2021) Coexistent CYP24A1 and PHEX Gene Mutations With Hypervitaminosis D Plus Hypercalcemia Treated With Fluconazole. Journal of the Endocrine Society, 5 (1). ISSN 2472-1972

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Abstract

CYP24A1 and PHEX gene mutations are rare and can cause hypercalcemia, hypervitaminosis D and elevated FGF23 levels. Fluconazole, an antifungal medication, has shown therapeutic benefit in achieving normocalcemia plus normalisation of vitamin D levels in this case report.

Item Type: Article
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
Depositing User: LivePure Connector
Date Deposited: 22 Jul 2021 00:09
Last Modified: 26 Jul 2021 00:05
URI: https://ueaeprints.uea.ac.uk/id/eprint/80703
DOI: 10.1210/jendso/bvab048

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