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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Detalhes bibliográficos
Publicado no:Endocrinol Diabetes Metab Case Rep
Main Authors: Arnold, Nirusha, O’Toole, Victor, Huynh, Tien, Smith, Howard C, Luxford, Catherine, Clifton-Bligh, Roderick, Eastman, Creswell J
Formato: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2019
Assuntos:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6893306/
https://ncbi.nlm.nih.gov/pubmed/31751313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-19-0114
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