Infantile hypercalcaemia type 1: A vitamin D-mediated, under-recognised cause of hypercalcaemia

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
Related URLs:	http://www.scopus.com/inward/record.url?...
Depositing User:	LivePure Connector
Date Deposited:	12 Oct 2021 01:20
Last Modified:	23 Oct 2022 02:57
URI:	https://ueaeprints.uea.ac.uk/id/eprint/81649
DOI:	10.1530/EDM-21-0058

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