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Pediatría Atención Primaria
Print version ISSN 1139-7632
Abstract
MORELL GARCIA, Marta et al. Nephrocalcinosis, a casual finding, a guiding sign. Rev Pediatr Aten Primaria [online]. 2019, vol.21, n.84, pp.389-391. Epub May 25, 2020. ISSN 1139-7632.
We present the case of a ten-year-old girl diagnosed with bilateral nephrocalcinosis after a radiological study requested for suspected scoliosis. The initial blood test and urine test guided us to the diagnosis of the rare disease called familial hypomagnesemia syndrome with hypercalciuria and nephrocalcinosis. The genetic diagnosis requested in the hospital confirms the diagnosis and allows to start the treatment.
Keywords : Hypercalciuria; Hypomagnesemia; Nephrocalcinosis.