RT Journal Article
SR Electronic
A1 Papez, Jan
A1 Starha, Jiri
A1 Slaba, Katerina
A1 Hubacek, Jaroslav A
A1 Pecl, Jakub
A1 Aulicka, Stefania
A1 Urik, Milan
A1 Ceylaner, Serdar
A1 Vesela, Petra
A1 Slaby, Ondrej
A1 Jabandziev, Petr
T1 Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report
JF Biomedical papers
YR 2021
VO 165
IS 4
SP 454
OP 457
DO 10.5507/bp.2021.027
UL https://biomed.papers.upol.cz/artkey/bio-202104-0017.php
AB 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.