Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation
Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to va...
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Galenos Yayincilik
2021-03-01
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doaj-e4a81eee248f4f24a86c284a60d9fbc82021-03-11T08:28:42ZengGalenos YayincilikJCRPE1308-57271308-57352021-03-0113111411810.4274/jcrpe.galenos.2020.2020.000413049054Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel MutationHüsniye Yücel0Çiğdem Genç Sel1Çiğdem Seher Kasapkara2Gülin Karacan Küçükali3Senay Savas-Erdeve4Ülkühan Öztoprak5Serdar Ceylaner6Saliha Şenel7Meltem Akçaboy8 Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Clinic of Pediatrics, Ankara, Turkey Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Clinic of Pediatric Neurology, Ankara, Turkey Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Clinic of Pediatric Metabolism, Ankara, Turkey Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Clinic of Pediatric Neurology, Ankara, Turkey Intergen Genetic Center, Ankara, Turkey Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Clinic of Pediatrics, Ankara, Turkey Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Clinic of Pediatrics, Ankara, Turkey Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the transient receptor potential melastatin 6 (TRPM6) genes. Here, a three year-old boy with a novel variant in this gene and had difficulties with enteral hypomagnesemia treatment is presented. He had recurrent seizures since two years of age and was diagnosed with epilepsy and treated with multiple antiepileptic drugs. Subsequently, he was diagnosed with rickets due to severe hypocalcemia at another center. The patient was hypotonic and neurodevelopmentally poor. The most prominent laboratory finding was of hypomagnesemia with secondary hypocalcemia. The genetic analysis revealed a novel variant in the TRPM6 gene. After parental treatment of intravenous magnesium (Mg2+) sulfate and calcium, the treatment was switched to enteral Mg2+ medications, due to persistent hypomagnesemia and the gastrointestinal side-effects, different oral preparations were used. The patient was stable on an oral maintenance dose of Mg2+ oxide with borderline blood Mg2+ levels and resolution of hypocalcemia. Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment. http://www.jcrpe.org/archives/archive-detail/article-preview/treatment-difficulties-in-hypomagnesemia-secondary/37305 hypocalcemiahypomagnesemiatrpm6transient receptor potential melastatin 6 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Hüsniye Yücel Çiğdem Genç Sel Çiğdem Seher Kasapkara Gülin Karacan Küçükali Senay Savas-Erdeve Ülkühan Öztoprak Serdar Ceylaner Saliha Şenel Meltem Akçaboy |
spellingShingle |
Hüsniye Yücel Çiğdem Genç Sel Çiğdem Seher Kasapkara Gülin Karacan Küçükali Senay Savas-Erdeve Ülkühan Öztoprak Serdar Ceylaner Saliha Şenel Meltem Akçaboy Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation JCRPE hypocalcemia hypomagnesemia trpm6 transient receptor potential melastatin 6 |
author_facet |
Hüsniye Yücel Çiğdem Genç Sel Çiğdem Seher Kasapkara Gülin Karacan Küçükali Senay Savas-Erdeve Ülkühan Öztoprak Serdar Ceylaner Saliha Şenel Meltem Akçaboy |
author_sort |
Hüsniye Yücel |
title |
Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation |
title_short |
Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation |
title_full |
Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation |
title_fullStr |
Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation |
title_full_unstemmed |
Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation |
title_sort |
treatment difficulties in hypomagnesemia secondary to the transient receptor potential melastatin 6 gene: a case report with novel mutation |
publisher |
Galenos Yayincilik |
series |
JCRPE |
issn |
1308-5727 1308-5735 |
publishDate |
2021-03-01 |
description |
Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the transient receptor potential melastatin 6 (TRPM6) genes. Here, a three year-old boy with a novel variant in this gene and had difficulties with enteral hypomagnesemia treatment is presented. He had recurrent seizures since two years of age and was diagnosed with epilepsy and treated with multiple antiepileptic drugs. Subsequently, he was diagnosed with rickets due to severe hypocalcemia at another center. The patient was hypotonic and neurodevelopmentally poor. The most prominent laboratory finding was of hypomagnesemia with secondary hypocalcemia. The genetic analysis revealed a novel variant in the TRPM6 gene. After parental treatment of intravenous magnesium (Mg2+) sulfate and calcium, the treatment was switched to enteral Mg2+ medications, due to persistent hypomagnesemia and the gastrointestinal side-effects, different oral preparations were used. The patient was stable on an oral maintenance dose of Mg2+ oxide with borderline blood Mg2+ levels and resolution of hypocalcemia. Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment. |
topic |
hypocalcemia hypomagnesemia trpm6 transient receptor potential melastatin 6 |
url |
http://www.jcrpe.org/archives/archive-detail/article-preview/treatment-difficulties-in-hypomagnesemia-secondary/37305
|
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