Article
Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature.
Nutrients - 17 Jun 2022
Pilz Stefan, Theiler-Schwetz Verena, Pludowski Pawel, Zelzer Sieglinde, Meinitzer Andreas, Karras Spyridon N, Misiorowski Waldemar, Zittermann Armin, März Winfried, Trummer Christian
Abstract excerpt
Pathogenic mutations of CYP24A1 lead to an impaired catabolism of vitamin D metabolites and should be considered in the differential diagnosis of hypercalcemia with low parathyroid hormone concentrations. Diagnosis is based on a reduced 24,25-dihydroxyvitamin D to 25-hydroxyvitamin D ratio and confirmed by genetic analyses. Pregnancy is associated with an upregulation of the active vitamin D hormone calcitriol...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.