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: (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

[thumbnail of Accepted_Manuscript]
PDF (Accepted_Manuscript) - Accepted Version
Download (245kB) | Preview
[thumbnail of Published_Version]
PDF (Published_Version) - Published Version
Available under License Creative Commons Attribution Non-commercial No Derivatives.

Download (482kB) | Preview


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:
Depositing User: LivePure Connector
Date Deposited: 12 Oct 2021 01:20
Last Modified: 23 Oct 2022 02:57
DOI: 10.1530/EDM-21-0058

Actions (login required)

View Item View Item