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

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

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Medical and Biotech [MESH] Definitions

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Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.

A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.

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