Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy

BACKGROUND: Mutations of the CYP24A1 gene, which encodes the 1,25-dihydroxyvitamin D-24-hydroxylase cytochrome P450, Cyp24A1, are predicted to result in elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrolithiasis, and bone disease. Treatment of hypercalcemia assoc...

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Detalhes bibliográficos
Main Authors: Tebben, Peter J., Milliner, Dawn S., Horst, Ronald L., Harris, Peter C., Singh, Ravinder J., Wu, Yanhong, Foreman, John W., Chelminski, Paul R., Kumar, Rajiv
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2012
Assuntos:
JCEM Online: Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3319216/
https://ncbi.nlm.nih.gov/pubmed/22337913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2011-1935
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