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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Détails bibliographiques
Publié dans:Endocrinol Diabetes Metab Case Rep
Auteurs principaux: Arnold, Nirusha, O’Toole, Victor, Huynh, Tien, Smith, Howard C, Luxford, Catherine, Clifton-Bligh, Roderick, Eastman, Creswell J
Format: Artigo
Langue:Inglês
Publié: Bioscientifica Ltd 2019
Sujets:
Insight into Disease Pathogenesis or Mechanism of Therapy
Accès en ligne: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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