Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole

We present a case where this biochemical pattern was seen and mutations in CYP24A1 were confirmed. We were able to successfully control serum calcium levels and reduce urinary calcium excretion by treatment with low-dose fluconazole, which inhibits vitamin D-synthesizing enzymes (including 25-hydroxylases and 1-α-hydroxylase) thereby reducing levels of 1,25–dihydroxy vitamin D.

Source: CKJ: Clinical Kidney Journal - July 27, 2015 Category: Urology & Nephrology Authors: Sayers, J., Hynes, A. M., Srivastava, S., Dowen, F., Quinton, R., Datta, H. K., Sayer, J. A. Tags: CALCIUM IN RARE DISEASE Source Type: research