Efficacité des synoviorthèses isotopiques en rhumatologie (experience du CHU de Caen entre 2005 et 2009)

CAEN-BU Médecine pharmacie (141182102) / SudocSudocFranceF

Atypical juxta-articular form of Dercum's disease in a patient treated with tocilizumab for rheumatoid arthritis

International audienc

Myositis ossificans circumscripta

International audienc

Tumor necrosis factor inhibitors continuation rates in patients with psoriatic arthritis: A French retrospective monocentre study

International audienc

Vertebral fractures and abdominal aortic aneurysm revealing Q fever

International audienc

Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D

International audienceOBJECTIVE: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