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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: Bioscientifica Ltd 2019
Subjects:
Insight into Disease Pathogenesis or Mechanism of Therapy
Online Access: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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