Article
Hypercalcemia and CYP24A1 Gene Mutation Diagnosed in the 2nd Trimester of a Twin Pregnancy: A Case Report.
The American journal of case reports - 18 Oct 2021
Romašovs Andris, Jaunozola Lauma, Berga-Švītiņa Egija, Daneberga Zanda, Miklaševičs Edvīns, Pīrāgs Valdis
Abstract excerpt
BACKGROUND Loss-of-function mutations of the CYP24A1 gene cause a deficiency of the CYP24A1 enzyme, which is involved in the catabolism of 1,25-dihydroxyvitamin D3. Patients who are CYP24A1 enzyme deficient are at increased risk of developing hypercalcemia during pregnancy and should avoid additional vitamin D supplementation. This case report provides additional information for managing and diagnosing patients...
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