Asunto(s)
Leche Humana/metabolismo , Radiofármacos/farmacocinética , Sinovitis/radioterapia , Radioisótopos de Itrio/farmacocinética , Adulto , Femenino , Humanos , Rodilla/patología , Radiofármacos/efectos adversos , Radiofármacos/uso terapéutico , Radioisótopos de Itrio/efectos adversos , Radioisótopos de Itrio/uso terapéuticoAsunto(s)
Síndromes de Compresión Nerviosa/etiología , Síndromes de Compresión Nerviosa/terapia , Radiculopatía/etiología , Radiculopatía/terapia , Artritis/complicaciones , Artritis/diagnóstico , Artritis/terapia , Diagnóstico Diferencial , Humanos , Infecciones/complicaciones , Infecciones/diagnóstico , Infecciones/terapia , Inflamación/complicaciones , Inflamación/diagnóstico , Inflamación/terapia , Nervio Mediano/patología , Modelos Biológicos , Neoplasias/complicaciones , Neoplasias/diagnóstico , Neoplasias/patología , Neoplasias/terapia , Síndromes de Compresión Nerviosa/complicaciones , Síndromes de Compresión Nerviosa/diagnóstico , Neuralgia/diagnóstico , Neuralgia/etiología , Neuralgia/terapia , Radiculopatía/diagnósticoRESUMEN
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.