Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy.

PJ, Tebben; DS, Milliner; RL, Horst; PC, Harris; RJ, Singh; Y, Wu; JW, Foreman; PR, Chelminski; R, Kumar

doi:10.1210/jc.2011-1935

Public

Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy.

Published in The Journal of clinical endocrinology and metabolism • Feb 15, 2012

Authors:

Tebben PJ

Milliner DS

Horst RL

Abstract

<h4>Background</h4>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 hypercalcemi...

View

Open Access

Generate AI Take for this paper

Highlights, strengths & weaknesses, commercial applications, and societal impact — written for this paper on demand.

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!