High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency

INTRODUCTION: Loss-of-function variants in the CYP24A1 gene cause a rare hereditary disease characterized by reduced 24-hydroxylase enzyme activity, increased serum 1,25-dihydroxycholecalciferol levels, hypercalcemia, hypercalciuria, and nephrocalcinosis and/or nephrolithiasis. Kidney cysts in patie...

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Detalles Bibliográficos
Autores principales: Hanna, Christian, Potretzke, Theodora A., Cogal, Andrea G., Mkhaimer, Yaman G., Tebben, Peter J., Torres, Vicente E., Lieske, John C., Harris, Peter C., Sas, David J., Milliner, Dawn S., Chebib, Fouad T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8258502/
https://www.ncbi.nlm.nih.gov/pubmed/34307984
http://dx.doi.org/10.1016/j.ekir.2021.04.030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8258502/
https://www.ncbi.nlm.nih.gov/pubmed/34307984
http://dx.doi.org/10.1016/j.ekir.2021.04.030

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