Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1.

M Kaufmann, G Jones, R St-Arnaud

Journal: Journal of endocrinological investigation 2024;47(11):2663-2670

PMID: 38780860

Abstract

Infantile hypercalcemia type 1 (HCINF1), formerly known as Lightwood syndrome, is a subtype of hypercalcemia caused by loss-of-function biallelic mutations in the vitamin D catabolic enzyme, CYP24A1, which 24-hydroxylates the hormone 1,25-(OH)D. This short review focuses on the main features of the HCINF1 disease; emerging knowledge of the structure and function of the cytochrome P450, CYP24A1 and the location of inactivating mutations; the development of a rapid LC-MS/MS-based laboratory test for defective 24-hydroxylation; and future implications for bioanalytical assay and treatment of all types of vitamin D-related hypercalcemic conditions.

Address: Department of Biomedical & Molecular Sciences, Queen's University, Kingston, ON, Canada. [email protected].; Department of Biomedical & Molecular Sciences, Queen's University, Kingston, ON, Canada.; Shriners Hospitals for Children-Canada and McGill University, Montreal, QC, Canada.

DOI: 10.1007/s40618-024-02381-8

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MeSH Terms: Humans, Hypercalcemia, Vitamin D3 24-Hydroxylase, Mutation, Nephrocalcinosis, Nephrolithiasis, Vitamin D