Publication details

Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report

Authors

PAPEŽ Jan ŠTARHA Jiří SLABÁ Kateřina HUBACEK Jaroslav A. PECL Jakub AULICKÁ Štefánia URÍK Milan CEYLANER Serdar POKORNÁ Petra SLABÝ Ondřej JABANDŽIEV Petr

Year of publication 2021
Type Article in Periodical
Magazine / Source Biomedical Papers, Olomouc: Palacky University
MU Faculty or unit

Faculty of Medicine

Citation
Web https://biomed.papers.upol.cz/artkey/bio-202104-0017_novel-mutations-in-trpm6-gene-associated-with-primary-hypomagnesemia-with-secondary-hypocalcemia-case-report.php
Doi http://dx.doi.org/10.5507/bp.2021.027
Keywords hypomagnesemia; hypocalcemia; transient receptor potential melastatin 6; infantile seizures
Description Background. Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation are generalized seizures, tetany, and/or muscle spasms. Case report. We present a 5 w/o female manifesting tonic-clonic seizures. Laboratory tests detected severe hypomagnesemia and hypocalcemia. The molecular genetic analysis revealed two novel mutations within the TRPM6 gene c.3308dupC (p.Pro1104Thrfs*28) (p.P1104Tfs*28) and c.3958C>T (p.Gln1302*) (p.Q1302*) and the patient was successfully treated with Mg supplementation. Conclusion. Ion disbalance should be taken into account in the differential diagnosis of infantile seizures. Accurate diagnosis of HSH together with appropriate treatment are crucial to prevent irreversible neurological outcomes.

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