Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1

SUMMARY: Parathyroid-independent hypercalcaemia of pregnancy, due to biallelic loss of function of the P450 enzyme CYP24A1, the principal inactivator of 1,25(OH)(2)D results in hypervitaminosis D, hypercalcaemia and hypercalciuria. We report two cases of this disorder, with intractable hypercalcaemi...

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Detalles Bibliográficos
Autores principales: Arnold, Nirusha, O’Toole, Victor, Huynh, Tien, Smith, Howard C, Luxford, Catherine, Clifton-Bligh, Roderick, Eastman, Creswell J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2019
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6893306/
https://www.ncbi.nlm.nih.gov/pubmed/31751313
http://dx.doi.org/10.1530/EDM-19-0114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6893306/
https://www.ncbi.nlm.nih.gov/pubmed/31751313
http://dx.doi.org/10.1530/EDM-19-0114

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