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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Autores principales: Jan Papez, Jiri Starha, Katerina Slaba, Jaroslav A Hubacek, Jakub Pecl, Stefania Aulicka, Milan Urik, Serdar Ceylaner, Petra Vesela, Ondrej Slaby, Petr Jabandziev
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Publicado: Palacký University Olomouc, Faculty of Medicine and Dentistry 2021
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spelling 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)
institution DOAJ
collection DOAJ
language EN
topic hypomagnesemia
hypocalcemia
transient receptor potential melastatin 6
infantile seizures
Medicine
R
spellingShingle 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
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