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Nizar, Ryizan, Cantley, Nathan W. P. and Tang, Jonathan C. Y. 
ORCID: https://orcid.org/0000-0001-6305-6333
(2021)
Infantile hypercalcaemia type 1: A vitamin D-mediated, under-recognised cause of hypercalcaemia.
Endocrinology, Diabetes and Metabolism Case Reports, 2021 (1).
ISSN 2052-0573
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Abstract
A 33-year-old gentleman of Egyptian heritage presented with a 21 years history of unexplained and recurrent hypercalcaemia, nephrolithiasis, nephrocalcinosis, and myocarditis. A similar history was also found in two first-degree relatives. Further investigation into the vitamin D metabolism pathway identified the biochemical hallmarks of infantile hypercalcaemia type 1 (IIH). A homozygous, likely pathogenic, variant in CYP24A1 was found on molecular genetic analysis confirming the diagnosis. Management now focuses on removing excess vitamin D from the metabolic pathway as well as reducing calcium intake to achieve serum-adjusted calcium to the middle of the reference range. If undiagnosed, IIH can cause serious renal complications and metabolic bone disease.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | internal medicine,endocrinology, diabetes and metabolism ,/dk/atira/pure/subjectarea/asjc/2700/2724 |
| 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 |
| Related URLs: | |
| Depositing User: | LivePure Connector |
| Date Deposited: | 12 Oct 2021 01:20 |
| Last Modified: | 06 Jun 2024 15:16 |
| URI: | https://ueaeprints.uea.ac.uk/id/eprint/81649 |
| DOI: | 10.1530/EDM-21-0058 |
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