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Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature

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 confi...

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Autores principales: Pilz, Stefan, Theiler-Schwetz, Verena, Pludowski, Pawel, Zelzer, Sieglinde, Meinitzer, Andreas, Karras, Spyridon N., Misiorowski, Waldemar, Zittermann, Armin, März, Winfried, Trummer, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9229801/
https://www.ncbi.nlm.nih.gov/pubmed/35745247
http://dx.doi.org/10.3390/nu14122518
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author Pilz, Stefan
Theiler-Schwetz, Verena
Pludowski, Pawel
Zelzer, Sieglinde
Meinitzer, Andreas
Karras, Spyridon N.
Misiorowski, Waldemar
Zittermann, Armin
März, Winfried
Trummer, Christian
author_facet Pilz, Stefan
Theiler-Schwetz, Verena
Pludowski, Pawel
Zelzer, Sieglinde
Meinitzer, Andreas
Karras, Spyridon N.
Misiorowski, Waldemar
Zittermann, Armin
März, Winfried
Trummer, Christian
author_sort Pilz, Stefan
collection PubMed
description 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 and may thus particularly trigger hypercalcemia in affected patients. We present a case report and a narrative review of pregnant women with CYP24A1 mutations (13 women with 29 pregnancies) outlining the laboratory and clinical characteristics during pregnancy and postpartum and the applied treatment approaches. In general, pregnancy triggered hypercalcemia in the affected women and obstetric complications were frequently reported. Conclusions on drugs to treat hypercalcemia during pregnancy are extremely limited and do not show clear evidence of efficacy. Strictly avoiding vitamin D supplementation seems to be effective in preventing or reducing the degree of hypercalcemia. Our case of a 24-year-old woman who presented with hypercalcemia in the 24th gestational week delivered a healthy baby and hypercalcemia resolved while breastfeeding. Pathogenic mutations of CYP24A1 mutations are rare but should be considered in the context of vitamin D supplementation during pregnancy.
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spelling pubmed-92298012022-06-25 Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature Pilz, Stefan Theiler-Schwetz, Verena Pludowski, Pawel Zelzer, Sieglinde Meinitzer, Andreas Karras, Spyridon N. Misiorowski, Waldemar Zittermann, Armin März, Winfried Trummer, Christian Nutrients Review 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 and may thus particularly trigger hypercalcemia in affected patients. We present a case report and a narrative review of pregnant women with CYP24A1 mutations (13 women with 29 pregnancies) outlining the laboratory and clinical characteristics during pregnancy and postpartum and the applied treatment approaches. In general, pregnancy triggered hypercalcemia in the affected women and obstetric complications were frequently reported. Conclusions on drugs to treat hypercalcemia during pregnancy are extremely limited and do not show clear evidence of efficacy. Strictly avoiding vitamin D supplementation seems to be effective in preventing or reducing the degree of hypercalcemia. Our case of a 24-year-old woman who presented with hypercalcemia in the 24th gestational week delivered a healthy baby and hypercalcemia resolved while breastfeeding. Pathogenic mutations of CYP24A1 mutations are rare but should be considered in the context of vitamin D supplementation during pregnancy. MDPI 2022-06-17 /pmc/articles/PMC9229801/ /pubmed/35745247 http://dx.doi.org/10.3390/nu14122518 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Pilz, Stefan
Theiler-Schwetz, Verena
Pludowski, Pawel
Zelzer, Sieglinde
Meinitzer, Andreas
Karras, Spyridon N.
Misiorowski, Waldemar
Zittermann, Armin
März, Winfried
Trummer, Christian
Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature
title Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature
title_full Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature
title_fullStr Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature
title_full_unstemmed Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature
title_short Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature
title_sort hypercalcemia in pregnancy due to cyp24a1 mutations: case report and review of the literature
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9229801/
https://www.ncbi.nlm.nih.gov/pubmed/35745247
http://dx.doi.org/10.3390/nu14122518
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