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.

Summary

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.

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