The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management
Gitelman syndrome (GS), or congenital hypokalemic hypomagnesemia hypocalciuria with metabolic alkalosis, is a congenital inherited tubulopathy. This tubulopathy is associated with disorders of water-electrolyte homeostasis, such as metabolic alkalosis, hypokalemia, hyponatremia, hypomagnesemia and h...
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| Format: | Article |
| Language: | English |
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IMR Press
2022-08-01
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| Series: | Reviews in Cardiovascular Medicine |
| Subjects: | |
| Online Access: | https://www.imrpress.com/journal/RCM/23/8/10.31083/j.rcm2308289 |
| _version_ | 1811188465595842560 |
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| author | Andrea Bezzeccheri Gianluca Di Giovanni Martina Belli Rocco Mollace Lucy Barone Massimiliano Macrini Alessio Di Landro Saverio Muscoli |
| author_facet | Andrea Bezzeccheri Gianluca Di Giovanni Martina Belli Rocco Mollace Lucy Barone Massimiliano Macrini Alessio Di Landro Saverio Muscoli |
| author_sort | Andrea Bezzeccheri |
| collection | DOAJ |
| description | Gitelman syndrome (GS), or congenital hypokalemic hypomagnesemia hypocalciuria with metabolic alkalosis, is a congenital inherited tubulopathy. This tubulopathy is associated with disorders of water-electrolyte homeostasis, such as metabolic alkalosis, hypokalemia, hyponatremia, hypomagnesemia and hypocalciuria. GS has an autosomal recessive inheritance. The loss-of-function mutation involves the gene that codifies for thiazide-sensitive sodium-chloride co-transporter located in the distal convoluted tubule. The physiopathology of the syndrome is characterized by activation of the renin-angiotensin-aldosterone system (RAAS) with a low plasmatic concentration of angiotensin-II. Despite hyper-activation of RAAS, average or low blood pressure is detected in association with low peripheral resistance and reduced response to vasopressors. Clinical findings are brief episodes of fatigue, syncope, vertigo, ataxia and blurred vision; sudden cardiac death might occur. This review aims to give insight into cardiovascular implications and management of GS. |
| first_indexed | 2024-04-11T14:19:15Z |
| format | Article |
| id | doaj.art-8b816bdd19964bfe8f39b1edb94a720c |
| institution | Directory Open Access Journal |
| issn | 1530-6550 |
| language | English |
| last_indexed | 2024-04-11T14:19:15Z |
| publishDate | 2022-08-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Reviews in Cardiovascular Medicine |
| spelling | doaj.art-8b816bdd19964bfe8f39b1edb94a720c2022-12-22T04:19:07ZengIMR PressReviews in Cardiovascular Medicine1530-65502022-08-0123828910.31083/j.rcm2308289S1530-6550(22)00649-4The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical ManagementAndrea Bezzeccheri0Gianluca Di Giovanni1Martina Belli2Rocco Mollace3Lucy Barone4Massimiliano Macrini5Alessio Di Landro6Saverio Muscoli7Department of Experimental Medicine, University of Rome “Tor Vergata'', 00133 Rome, ItalyDepartment of Experimental Medicine, University of Rome “Tor Vergata'', 00133 Rome, ItalyDepartment of Experimental Medicine, University of Rome “Tor Vergata'', 00133 Rome, ItalyHumanitas Gavazzeni, 24125 Bergamo, ItalyDivision of Cardiology, Fondazione Policlinico “Tor Vergata'', 00133 Rome, ItalyDivision of Cardiology, Fondazione Policlinico “Tor Vergata'', 00133 Rome, ItalyDivision of Cardiology, Fondazione Policlinico “Tor Vergata'', 00133 Rome, ItalyDivision of Cardiology, Fondazione Policlinico “Tor Vergata'', 00133 Rome, ItalyGitelman syndrome (GS), or congenital hypokalemic hypomagnesemia hypocalciuria with metabolic alkalosis, is a congenital inherited tubulopathy. This tubulopathy is associated with disorders of water-electrolyte homeostasis, such as metabolic alkalosis, hypokalemia, hyponatremia, hypomagnesemia and hypocalciuria. GS has an autosomal recessive inheritance. The loss-of-function mutation involves the gene that codifies for thiazide-sensitive sodium-chloride co-transporter located in the distal convoluted tubule. The physiopathology of the syndrome is characterized by activation of the renin-angiotensin-aldosterone system (RAAS) with a low plasmatic concentration of angiotensin-II. Despite hyper-activation of RAAS, average or low blood pressure is detected in association with low peripheral resistance and reduced response to vasopressors. Clinical findings are brief episodes of fatigue, syncope, vertigo, ataxia and blurred vision; sudden cardiac death might occur. This review aims to give insight into cardiovascular implications and management of GS.https://www.imrpress.com/journal/RCM/23/8/10.31083/j.rcm2308289gitelman syndromesudden cardiac deathmetabolic alkalosishypokalemiahypomagnesemiahypocalciuriaarrhythmiaheart failurehypotension |
| spellingShingle | Andrea Bezzeccheri Gianluca Di Giovanni Martina Belli Rocco Mollace Lucy Barone Massimiliano Macrini Alessio Di Landro Saverio Muscoli The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management Reviews in Cardiovascular Medicine gitelman syndrome sudden cardiac death metabolic alkalosis hypokalemia hypomagnesemia hypocalciuria arrhythmia heart failure hypotension |
| title | The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management |
| title_full | The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management |
| title_fullStr | The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management |
| title_full_unstemmed | The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management |
| title_short | The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management |
| title_sort | impact of gitelman syndrome on cardiovascular disease from physiopathology to clinical management |
| topic | gitelman syndrome sudden cardiac death metabolic alkalosis hypokalemia hypomagnesemia hypocalciuria arrhythmia heart failure hypotension |
| url | https://www.imrpress.com/journal/RCM/23/8/10.31083/j.rcm2308289 |
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