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, 2021, vol. 165, No 4, p. 454-457. ISSN 1213-8118. Available from: https://dx.doi.org/10.5507/bp.2021.027. |
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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, 2021, vol.~165, No~4, p.~454-457. ISSN~1213-8118. Available from: https://dx.doi.org/10.5507/bp.2021.027.
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