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Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D

Abstract : OBJECTIVE: Hypersensitivity to vitamin D (HVD) due to a loss of function mutation of the CYP24A1 gene, which encodes vitamin D catabolizing enzyme was initially described as a cause of acute hypercalcemia in children and chronic renal diseases in adults. METHODS: We describe the first case of a patient presenting a calcium pyrophosphate deposition disease (CPDD) revealing a HVD. RESULTS: An abnormality of phospho-calcic metabolism was discovered during the course of an etiological workup for CPDD in a 52-year-old patient. Laboratory tests revealed a blood calcium level at the upper limit of normal range, a markedly low parathormone level, a 25-hydroxyvitamin D level within the upper level of normal, an elevated 1,25-dihydroxyvitamin D level and an elevated urine calcium level. CYP24A1 gene sequencing analysis revealed two mutations in a heterozygous state. The study of the 25-hydroxyvitamin D3: 24,25-dihydroxyvitamin D3 ratio, two metabolites of vitamin D confirmed the enzyme deficiency in vivo. Our observation suggests that this disease could correspond to a rare cause of CPDD. CONCLUSION: In cases of CPDD associated with calcium values within the upper limit of normal range (or hypercalcemia) with an abnormally low PTH, one could suggest searching for HVD.
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https://hal-normandie-univ.archives-ouvertes.fr/hal-02154837
Contributor : Hélène Bouraïma-Lelong <>
Submitted on : Thursday, June 13, 2019 - 9:57:24 AM
Last modification on : Monday, May 11, 2020 - 5:30:09 PM

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Pauline Baudart, Arnaud Molin, Johann Cesini, Glenville Jones, Martin Kaufmann, et al.. Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D. Joint Bone Spine, Elsevier Masson, 2017, 84 (3), pp.349-351. ⟨10.1016/j.jbspin.2016.11.006⟩. ⟨hal-02154837⟩

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