Familial hypomagnesemia, hypercalciuria with nephrocalcinosis syndrome: report of a case.

18:16 EDT 1st August 2015 | BioPortfolio

Summary of "Familial hypomagnesemia, hypercalciuria with nephrocalcinosis syndrome: report of a case."

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.

Affiliation

Servicio de Clínica Pediátrica, Hospital General de Niños Pedro de Elizalde.

Journal Details

This article was published in the following journal.

Name: Archivos argentinos de pediatria
ISSN: 1668-3501
Pages: 8-12

Links

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Medical and Biotech [MESH] Definitions

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