Resumo

ALVAREZ PONTE, Silvia B. et al. Familial hypomagnesemia, hypercalciuria with nephrocalcinosis syndrome: report of a case. Arch. argent. pediatr. [online]. 2011, vol.109, n.1, pp.8-12. ISSN 0325-0075.

Familial hypomagnesemia and hypercalciuria with nephrocalcinosis is a rare autosomal recessive disease characterized by renal calcium and magnesium wasting, evolving in the progressive decrease of renal function, eventually requiring kidney transplant. Clinical findings include urinary infection, polyuria, polydipsia, cramps, tremors, convulsions, among others; these, asociated to ocular and/or auditive abnormalities. We present a 4 year-old female with the syndrome, which was manifested by typical signs and symptoms in daily practice: fever, abdominal pain, polyuria and polydipsia. These symptoms may defer the diagnosis of the syndrome.

Palavras-chave : Hipomagnesemia; Hipercalciuria; Nefrocalcinosis; Insuficiencia renal crónica; Miopía; Hypomagnesemia; Hypercalciuria; Nephrocalcinosis; Renal failure; Myopia.

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