Rare presentation of Gitelman syndrome: a case report and literature review
Gitelman Syndrome (GS), also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder. GS presents with a specific defect in kidney function, that leads to hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Here, we present a 30-year-old woman without a medical hist...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2021-05-01
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| Series: | Case Reports in Clinical Practice |
| Subjects: | |
| Online Access: | https://crcp.tums.ac.ir/index.php/crcp/article/view/352 |
| _version_ | 1798028138703224832 |
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| author | Nasim Khajavirad Saeed Shakiba Mahsa Abbaszadeh Sahar Karimpour Reyhan |
| author_facet | Nasim Khajavirad Saeed Shakiba Mahsa Abbaszadeh Sahar Karimpour Reyhan |
| author_sort | Nasim Khajavirad |
| collection | DOAJ |
| description | Gitelman Syndrome (GS), also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder. GS presents with a specific defect in kidney function, that leads to hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Here, we present a 30-year-old woman without a medical history. She experienced an episode of tonic-clonic seizure, generalized muscle weakness, and severe hyponatremia as the first presentation of GS. The interesting point of this case was her late-onset presentation and the long period of her disease diagnosis; thus, it highlights the importance of considering this diagnosis. |
| first_indexed | 2024-04-11T19:04:12Z |
| format | Article |
| id | doaj.art-7964e748b92b4dee9457b7d1b6a27a3d |
| institution | Directory Open Access Journal |
| issn | 2538-2683 2538-2691 |
| language | English |
| last_indexed | 2024-04-11T19:04:12Z |
| publishDate | 2021-05-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Case Reports in Clinical Practice |
| spelling | doaj.art-7964e748b92b4dee9457b7d1b6a27a3d2022-12-22T04:07:53ZengTehran University of Medical SciencesCase Reports in Clinical Practice2538-26832538-26912021-05-016110.18502/crcp.v6i1.5954Rare presentation of Gitelman syndrome: a case report and literature reviewNasim Khajavirad0Saeed Shakiba1Mahsa Abbaszadeh2Sahar Karimpour Reyhan3Department of Internal Medicine, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.Department of Internal Medicine, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.Department of Internal Medicine, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.Department of Internal Medicine, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.Gitelman Syndrome (GS), also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder. GS presents with a specific defect in kidney function, that leads to hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Here, we present a 30-year-old woman without a medical history. She experienced an episode of tonic-clonic seizure, generalized muscle weakness, and severe hyponatremia as the first presentation of GS. The interesting point of this case was her late-onset presentation and the long period of her disease diagnosis; thus, it highlights the importance of considering this diagnosis.https://crcp.tums.ac.ir/index.php/crcp/article/view/352Gitelman syndromeHyponatremia |
| spellingShingle | Nasim Khajavirad Saeed Shakiba Mahsa Abbaszadeh Sahar Karimpour Reyhan Rare presentation of Gitelman syndrome: a case report and literature review Case Reports in Clinical Practice Gitelman syndrome Hyponatremia |
| title | Rare presentation of Gitelman syndrome: a case report and literature review |
| title_full | Rare presentation of Gitelman syndrome: a case report and literature review |
| title_fullStr | Rare presentation of Gitelman syndrome: a case report and literature review |
| title_full_unstemmed | Rare presentation of Gitelman syndrome: a case report and literature review |
| title_short | Rare presentation of Gitelman syndrome: a case report and literature review |
| title_sort | rare presentation of gitelman syndrome a case report and literature review |
| topic | Gitelman syndrome Hyponatremia |
| url | https://crcp.tums.ac.ir/index.php/crcp/article/view/352 |
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