Assuntos
Leite Humano/metabolismo , Compostos Radiofarmacêuticos/farmacocinética , Sinovite/radioterapia , Radioisótopos de Ítrio/farmacocinética , Adulto , Feminino , Humanos , Joelho/patologia , Compostos Radiofarmacêuticos/efeitos adversos , Compostos Radiofarmacêuticos/uso terapêutico , Radioisótopos de Ítrio/efeitos adversos , Radioisótopos de Ítrio/uso terapêuticoAssuntos
Adipose Dolorosa/etiologia , Anticorpos Monoclonais Humanizados/efeitos adversos , Anticorpos Monoclonais/efeitos adversos , Artrite Reumatoide/tratamento farmacológico , Adipose Dolorosa/fisiopatologia , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais Humanizados/uso terapêutico , Artrite Reumatoide/diagnóstico , Feminino , Humanos , Articulação do Joelho/fisiopatologia , Pessoa de Meia-Idade , Doenças Raras , Medição de Risco , Índice de Gravidade de DoençaRESUMO
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.