Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis

@article{JobstSchwan2015DiscordantCC,
  title={Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis},
  author={Tilman Jobst-Schwan and Andrea Pannes and Karl P. Schlingmann and Kai-Uwe Eckardt and Bodo B. Beck and Michael Sean Wiesener},
  journal={Kidney and Blood Pressure Research},
  year={2015},
  volume={40},
  pages={443 - 451}
}
Background/Aims: Hypercalcemia can result in nephrocalcinosis/nephrolithiasis and may lead to renal failure. [...] Key Method Results: The patient was hospitalized with severe malaise during an acute EBV-infection. He showed hypercalcemia > 3mmol/l and acute, hypovolemic renal failure with profound nephrocalcinosis, but no hypercalciuria. Genetic workup revealed a homozygous loss-of-function mutation p.E143del in the CYP24A1 gene. His clinically asymptomatic brother showed nephrocalcinosis of lesser degree…Expand
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TLDR
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TLDR
Genetic tests are helpful to counsel the susceptible individuals to avoid vitamin D and take preventive measures in order to avoid complications, and two novel CYP24A1 variants were found in two patients. Expand
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