title: [Familial hypomagnesemia, hypercalciuria with nephrocalcinosis syndrome: report of a case].
abstract: 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, associated 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.
authors.affiliation: Servicio de Clínica Pediátrica, Hospital General de Niños Pedro de Elizalde, Argentina. salvarezponte@yahoo.com.ar
authors.forename: Silvia B
authors.initials: SB
authors.lastname: Alvarez Ponte
authors.forename: Mariela
authors.initials: M
authors.lastname: López
authors.forename: Florencia
authors.initials: F
authors.lastname: Golinelli
authors.forename: Sabrina
authors.initials: S
authors.lastname: D'Angelo
authors.forename: Sandra
authors.initials: S
authors.lastname: Martin
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D053565:Hypercalciuria / Q000175:diagnosis; D009397:Nephrocalcinosis / Q000175:diagnosis; D015499:Renal Tubular Transport, Inborn Errors / Q000175:diagnosis