AN INFANT WITH IDIOPATHIC HYPERCALCIURIA AND NEPHROLITHIASIS ASSOCIATED WITH CYP24A1 ENZYME POLYMORPHISM: A CASE REPORT

CYP24A1 is an enzyme that inactivates vitamin D and encodes vitamin D 24-hydroxylase. Mutations in this enzyme have been linked with idiopathic infantile hypercalcemia, nephrolithiasis, and nephrocalcinosis. Genetic testing for this mutation should be considered in the presence of calciuria, elevate...

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Detalles Bibliográficos
Autores principales: Trutin, Ivana, Škorić, Iva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sestre Milosrdnice University Hospital and Institute of Clinical Medical Research, Vinogradska cesta c. 29 Zagreb 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907965/
https://www.ncbi.nlm.nih.gov/pubmed/35282483
http://dx.doi.org/10.20471/acc.2021.60.03.27

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907965/
https://www.ncbi.nlm.nih.gov/pubmed/35282483
http://dx.doi.org/10.20471/acc.2021.60.03.27

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