Cargando…
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...
Autores principales: | , , , , , , , , , |
---|---|
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 |
_version_ | 1784734843742978048 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9229801 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT pilzstefan hypercalcemiainpregnancyduetocyp24a1mutationscasereportandreviewoftheliterature AT theilerschwetzverena hypercalcemiainpregnancyduetocyp24a1mutationscasereportandreviewoftheliterature AT pludowskipawel hypercalcemiainpregnancyduetocyp24a1mutationscasereportandreviewoftheliterature AT zelzersieglinde hypercalcemiainpregnancyduetocyp24a1mutationscasereportandreviewoftheliterature AT meinitzerandreas hypercalcemiainpregnancyduetocyp24a1mutationscasereportandreviewoftheliterature AT karrasspyridonn hypercalcemiainpregnancyduetocyp24a1mutationscasereportandreviewoftheliterature AT misiorowskiwaldemar hypercalcemiainpregnancyduetocyp24a1mutationscasereportandreviewoftheliterature AT zittermannarmin hypercalcemiainpregnancyduetocyp24a1mutationscasereportandreviewoftheliterature AT marzwinfried hypercalcemiainpregnancyduetocyp24a1mutationscasereportandreviewoftheliterature AT trummerchristian hypercalcemiainpregnancyduetocyp24a1mutationscasereportandreviewoftheliterature |