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

Bawden, David, Fraser, William, Green, Darrell ORCID: https://orcid.org/0000-0002-0217-3322 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
UEA Research Groups:	Faculty of Medicine and Health Sciences > Research Groups > Musculoskeletal Medicine Faculty of Medicine and Health Sciences > Research Centres > Metabolic Health
Depositing User:	LivePure Connector
Date Deposited:	22 Jul 2021 00:09
Last Modified:	25 Sep 2024 15:43
URI:	https://ueaeprints.uea.ac.uk/id/eprint/80703
DOI:	10.1210/jendso/bvab048

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