Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report
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...
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Palacký University Olomouc, Faculty of Medicine and Dentistry
2021
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oai:doaj.org-article:41128d7da2d14bd8b8c01741231cabd02021-11-29T09:17:22ZNovel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report1213-81181804-7521https://doaj.org/article/41128d7da2d14bd8b8c01741231cabd02021-11-01T00:00:00Zhttps://biomed.papers.upol.cz/artkey/bio-202104-0017_novel-mutations-in-trpm6-gene-associated-with-primary-hypomagnesemia-with-secondary-hypocalcemia-case-report.phphttps://doaj.org/toc/1213-8118https://doaj.org/toc/1804-7521Background. 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.Jan PapezJiri StarhaKaterina SlabaJaroslav A HubacekJakub PeclStefania AulickaMilan UrikSerdar CeylanerPetra VeselaOndrej SlabyPetr JabandzievPalacký University Olomouc, Faculty of Medicine and Dentistryarticlehypomagnesemiahypocalcemiatransient receptor potential melastatin 6infantile seizuresMedicineRENBiomedical Papers, Vol 165, Iss 4, Pp 454-457 (2021) |
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hypomagnesemia hypocalcemia transient receptor potential melastatin 6 infantile seizures Medicine R |
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hypomagnesemia hypocalcemia transient receptor potential melastatin 6 infantile seizures Medicine R Jan Papez Jiri Starha Katerina Slaba Jaroslav A Hubacek Jakub Pecl Stefania Aulicka Milan Urik Serdar Ceylaner Petra Vesela Ondrej Slaby Petr Jabandziev Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report |
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. |
format |
article |
author |
Jan Papez Jiri Starha Katerina Slaba Jaroslav A Hubacek Jakub Pecl Stefania Aulicka Milan Urik Serdar Ceylaner Petra Vesela Ondrej Slaby Petr Jabandziev |
author_facet |
Jan Papez Jiri Starha Katerina Slaba Jaroslav A Hubacek Jakub Pecl Stefania Aulicka Milan Urik Serdar Ceylaner Petra Vesela Ondrej Slaby Petr Jabandziev |
author_sort |
Jan Papez |
title |
Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report |
title_short |
Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report |
title_full |
Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report |
title_fullStr |
Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report |
title_full_unstemmed |
Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report |
title_sort |
novel mutations in trpm6 gene associated with primary hypomagnesemia with secondary hypocalcemia. case report |
publisher |
Palacký University Olomouc, Faculty of Medicine and Dentistry |
publishDate |
2021 |
url |
https://doaj.org/article/41128d7da2d14bd8b8c01741231cabd0 |
work_keys_str_mv |
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