CYP24A1 Deficiency Mimicking Other Causes of Hypercalciuria and Nephrocalcinosis: A Case Report-Reference-Cited by-同舟云学术

CYP24A1 Deficiency Mimicking Other Causes of Hypercalciuria and Nephrocalcinosis: A Case Report

Published:2024-07-09 Issue:1 Volume:22 Page:
ISSN:2948-2445
Container-title:Clinical & Translational Metabolism
language:en
Short-container-title:Clin & Translational Metab.

Author:

Fernández-Sánchez A.,Cárdenas-Salas J. J.,Kelly F. Blanco,Campos-Valverde D.,Bueno-Serrano G.,Alcoba-García M. P.,Pérez-Gomez M. V.,Peña-Sanchez L.,Porres-Cubero A.,Tabares J. J.,Barrio-Dorado M. P.,Roselló M. G.,Trujillo-Tiebas M. J.,Vázquez C.

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s12018-024-09293-4.pdf

Reference7 articles.

1. Hill FJ, Sayer JA. Clinical and biochemical features of patients with CYP24A1 mutations. In: Gowder S, editor. A critical evaluation of vitamin D - basic overview. 2017. https://doi.org/10.5772/64503.

2. Azer S, Vaughan LE, et al. 24-Hydroxylase deficiency due to CYP24A1 sequence variants: comparison with other vitamin D−mediated hypercalcemia disorders. J Endocrine Soc. 2021;5(9):1–10. https://doi.org/10.1210/jendso/bvab.

3. Nesterova G, Malicdan M, et al. 1,25-(OH)2D–24 Hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis - by the Clinical. J Am Soc Nephrol. 2013;8:649.

4. Tebben PJ, Milliner DS, et al. Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy. J Clin Endocrinol Metab. 2012;97(3):E423–7.

5. Sayers J, Hynes AM, et al. Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole. Clin Kidney J. 2015;8(4):453.