Pediatr. praxi. 2020;21(2):117-119 | DOI: 10.36290/ped.2020.023

Primary hypomagnesemia with secondary hypocalcemia

MUDr. Jan Papež1, MUDr. Jiří Štarha, Ph.D.1, MUDr. Petr Jabandžiev, Ph.D.1,3, MUDr. Štefánia Aulická, Ph.D.2,3, prof. MUDr. Zdeněk Doležel, CSc.1
1 Pediatrická klinika LF MU a FN Brno
2 Klinika dětské neurologie LF MU a FN Brno
3 Středoevropský technologický institut - CEITEC, Brno

Primary hypomagnesia with secondary hypocalcemia is a rare genetic disorder that appears in early infancy. The cause of this disease is an impaired intestinal absorption of magnesium leading to its low serum level accompanied by hypocalcemia. Typical signs at initial manifestation are generalized seizures, tetany and/or muscle spasms. The prognosis of the disease depends on rapidity and accuracy of the diagnosis.

Keywords: PHSH, hypomagnesemia, hypocalcemia, TRPM6.

Published: June 2, 2020  Show citation

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Papež J, Štarha J, Jabandžiev P, Aulická Š, Doležel Z. Primary hypomagnesemia with secondary hypocalcemia. Pediatr. praxi. 2020;21(2):117-119. doi: 10.36290/ped.2020.023.
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