| PAPEŽ, Jan, Jiří ŠTARHA, Kateřina SLABÁ, Jaroslav A. HUBACEK, Jakub PECL, Štefánia AULICKÁ, Milan URÍK, Serdar CEYLANER, Petra POKORNÁ, Ondřej SLABÝ and Petr JABANDŽIEV. Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report. Biomedical Papers, Olomouc: Palacky University. Olomouc: Palacky University, vol. 165, No 4, p. 454-457. ISSN 1213-8118. doi:10.5507/bp.2021.027. 2021. |
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@article{1809540,
author = {Papež, Jan and Štarha, Jiří and Slabá, Kateřina and Hubacek, Jaroslav A. and Pecl, Jakub and Aulická, Štefánia and Urík, Milan and Ceylaner, Serdar and Pokorná, Petra and Slabý, Ondřej and Jabandžiev, Petr},
article_location = {Olomouc},
article_number = {4},
doi = {http://dx.doi.org/10.5507/bp.2021.027},
keywords = {hypomagnesemia; hypocalcemia; transient receptor potential melastatin 6; infantile seizures},
language = {eng},
issn = {1213-8118},
journal = {Biomedical Papers, Olomouc: Palacky University},
title = {Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report},
url = {https://biomed.papers.upol.cz/artkey/bio-202104-0017_novel-mutations-in-trpm6-gene-associated-with-primary-hypomagnesemia-with-secondary-hypocalcemia-case-report.php},
volume = {165},
year = {2021}
}
TY - JOUR
ID - 1809540
AU - Papež, Jan - Štarha, Jiří - Slabá, Kateřina - Hubacek, Jaroslav A. - Pecl, Jakub - Aulická, Štefánia - Urík, Milan - Ceylaner, Serdar - Pokorná, Petra - Slabý, Ondřej - Jabandžiev, Petr
PY - 2021
TI - Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report
JF - Biomedical Papers, Olomouc: Palacky University
VL - 165
IS - 4
SP - 454-457
EP - 454-457
PB - Palacky University
SN - 12138118
KW - hypomagnesemia
KW - hypocalcemia
KW - transient receptor potential melastatin 6
KW - infantile seizures
UR - https://biomed.papers.upol.cz/artkey/bio-202104-0017_novel-mutations-in-trpm6-gene-associated-with-primary-hypomagnesemia-with-secondary-hypocalcemia-case-report.php
N2 - 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.
ER -
PAPEŽ, Jan, Jiří ŠTARHA, Kateřina SLABÁ, Jaroslav A. HUBACEK, Jakub PECL, Štefánia AULICKÁ, Milan URÍK, Serdar CEYLANER, Petra POKORNÁ, Ondřej SLABÝ and Petr JABANDŽIEV. Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report. \textit{Biomedical Papers, Olomouc: Palacky University}. Olomouc: Palacky University, vol.~165, No~4, p.~454-457. ISSN~1213-8118. doi:10.5507/bp.2021.027. 2021.
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