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Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
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A lifetime of hypercalcemia and hypercalciuria, finally explained

Thomas P Jacobs1, Martin Kaufman, Glenville Jones

  • 1Division of Endocrinology (T.P.J., J.P.B.), Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032; Department of Biomedical and Molecular Sciences (M.K., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Nephology Research (R.K.), Departments of Medicine, Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota 55902; Department of General Pediatrics (K.-P.S.), University Children's Hospital, 48129 Munster, Germany; and School of Environmental and Biological Sciences (S.S.), Rutgers University, New Brunswick, New Jersey 08901.

The Journal of Clinical Endocrinology and Metabolism
|January 16, 2014
PubMed
Summary

Genetic mutations in CYP24A1 can cause hypercalcemia, hypercalciuria, and kidney stones by impairing vitamin D metabolism. This case highlights a patient diagnosed with these conditions due to a homozygous CYP24A1 mutation.

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