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Published on: March 14, 2017
Therapy-Resistant Hypercalcemia in a Patient with Inactivating CYP24A1 Mutation and Recurrent Nephrolithiasis: Beware
K David1,2, R Khalil3,4, H Hannon5
1Department of Chronic Diseases and Metabolism, Laboratory of Clinical and Experimental Endocrinology, KU Leuven, Herestraat 49, ON1 box 902, 3000, Leuven, Belgium. karel.david@kuleuven.be.
A rare CYP24A1 mutation caused kidney stones and worsening hypercalcemia. Total parathyroidectomy successfully normalized calcium levels, improved bone health, and enhanced kidney function, offering a new treatment avenue.
Area of Science:
- Biochemistry
- Nephrology
- Endocrinology
Background:
- CYP24A1 mutations can lead to hypercalcemia and kidney issues.
- This case presents a mild loss-of-function homozygous CYP24A1 mutation.
- The patient experienced recurrent nephrolithiasis and progressive hypercalcemia.
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