Three Sisters With Heterozygous Gene Variants of CYP24A1: Maternal Hypercalcemia, New-Onset Hypertension, and Neonatal Hypoglycemia

Gene variants of CYP24A1, which encodes the enzyme 24-hydroxylase, are a most unusual cause of maternal hypercalcemia. Loss-of-function mutations in CYP24A1 result in impaired dehydroxylation of active vitamin D (calcitriol). Secondary to this hypercalcemia, hypercalciuria and suppressed parathyroid...

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Detalles Bibliográficos
Autores principales: Hedberg, Fredric, Pilo, Christina, Wikner, Johan, Törring, Ove, Calissendorff, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2018
Materias:
Clinical Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356119/
https://www.ncbi.nlm.nih.gov/pubmed/30729229
http://dx.doi.org/10.1210/js.2018-00337

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356119/
https://www.ncbi.nlm.nih.gov/pubmed/30729229
http://dx.doi.org/10.1210/js.2018-00337

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