Vol. 21 - Num. 84
Clinical Reviews
Marta Morell Garcíaa, Amparo Ros Floresb, Ana Bayo Pérezc, Nerea Sarrión Sosd, David Aguilera Alonsoa
aServicio de Pediatría. Consorcio Hospital General de Valencia. Valencia. España.
bPediatra. CS Nou Moles. Valencia. España.
cCS Integrado de Alaquás. Hospital General Universitario de Valencia. Valencia. España.
dPediatra. CS Guillem de Castro. Valencia. España.
Correspondence: M Morell. E-mail: marta.8590@gmail.com
Reference of this article: Morell García M, Ros Flores A, Bayo Pérez A, Sarrión Sos N, Aguilera Alonso D. Nephrocalcinosis, a casual finding, a guiding sign. Rev Pediatr Aten Primaria. 2019;21:389-91.
Published in Internet: 21-11-2019 - Visits: 15680
Abstract
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
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