The hypercalcaemia of CYP24A1 inactivation: Newways to improve diagnosis and treatment

Adriana S. Dusso, Carlos Gomez-Alonso, Jorge B. Cannata-Andia

Research output: Contribution to journalReview articlepeer-review

6 Scopus citations


This case report presents fluoconazole efficacy to reduce hypercalcaemia and increased urinary calcium excretion in a patient with nephrocalcinosis after a long history of recurrent renal stones caused by a loss-of-function mutation of the CYP24A1 gene. The CYP24A1 gene codes for a key enzyme in the vitamin D endocrine system that protects against vitamin D toxicity by degrading the circulating excess of both 1,25-dihydroxyvitamin D, the hormonal form of vitamin D, and its precursor, 25-hydroxyvitamin D. In order to expedite the identification of this rare disorder and improve therapies to avoid its progression to nephrocalcinosis, this editorial updates the current knowledge on the frequency of CYP24A1-inactivating mutations, the features of their early clinical presentation and progression, and the pathophysiology of vitamin D activation in health and in granulomatous disorders that may help improve current treatment.

Original languageEnglish
Pages (from-to)456-458
Number of pages3
JournalClinical Kidney Journal
Issue number4
StatePublished - Aug 2015


  • Albumin
  • Calcaemia
  • Calcium
  • Gene expression
  • Vitamin D


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