Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians

Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. The genes associated with these pathologies encode electrolyte transport proteins located in the nephron, particularly in the Distal Convoluted Tubule and Ascending Loop of Henle. Therefore...

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Autores principales:	Laura Nuñez-Gonzalez, Noa Carrera, Miguel A. Garcia-Gonzalez
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	Bartter syndrome Gitelman syndrome genetics genetic diagnosis therapeutic targets hyponatremia Biology (General) QH301-705.5 Chemistry QD1-999
Acceso en línea:	https://doaj.org/article/f5e6aa1edb344b14b2e713f194859c3c
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spelling	oai:doaj.org-article:f5e6aa1edb344b14b2e713f194859c3c2021-11-11T16:53:21ZMolecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians10.3390/ijms2221114141422-00671661-6596https://doaj.org/article/f5e6aa1edb344b14b2e713f194859c3c2021-10-01T00:00:00Zhttps://www.mdpi.com/1422-0067/22/21/11414https://doaj.org/toc/1661-6596https://doaj.org/toc/1422-0067Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. The genes associated with these pathologies encode electrolyte transport proteins located in the nephron, particularly in the Distal Convoluted Tubule and Ascending Loop of Henle. Therefore, both syndromes are characterized by alterations in the secretion and reabsorption processes that occur in these regions. Patients suffer from deficiencies in the concentration of electrolytes in the blood and urine, which leads to different systemic consequences related to these salt-wasting processes. The main clinical features of both syndromes are hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemia and hyperaldosteronism. Despite having a different molecular etiology, Gitelman and Bartter syndromes share a relevant number of clinical symptoms, and they have similar therapeutic approaches. The main basis of their treatment consists of electrolytes supplements accompanied by dietary changes. Specifically for Bartter syndrome, the use of non-steroidal anti-inflammatory drugs is also strongly supported. This review aims to address the latest diagnostic challenges and therapeutic approaches, as well as relevant recent research on the biology of the proteins involved in disease. Finally, we highlight several objectives to continue advancing in the characterization of both etiologies.Laura Nuñez-GonzalezNoa CarreraMiguel A. Garcia-GonzalezMDPI AGarticleBartter syndromeGitelman syndromegeneticsgenetic diagnosistherapeutic targetshyponatremiaBiology (General)QH301-705.5ChemistryQD1-999ENInternational Journal of Molecular Sciences, Vol 22, Iss 11414, p 11414 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Bartter syndrome Gitelman syndrome genetics genetic diagnosis therapeutic targets hyponatremia Biology (General) QH301-705.5 Chemistry QD1-999
spellingShingle	Bartter syndrome Gitelman syndrome genetics genetic diagnosis therapeutic targets hyponatremia Biology (General) QH301-705.5 Chemistry QD1-999 Laura Nuñez-Gonzalez Noa Carrera Miguel A. Garcia-Gonzalez Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians
description	Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. The genes associated with these pathologies encode electrolyte transport proteins located in the nephron, particularly in the Distal Convoluted Tubule and Ascending Loop of Henle. Therefore, both syndromes are characterized by alterations in the secretion and reabsorption processes that occur in these regions. Patients suffer from deficiencies in the concentration of electrolytes in the blood and urine, which leads to different systemic consequences related to these salt-wasting processes. The main clinical features of both syndromes are hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemia and hyperaldosteronism. Despite having a different molecular etiology, Gitelman and Bartter syndromes share a relevant number of clinical symptoms, and they have similar therapeutic approaches. The main basis of their treatment consists of electrolytes supplements accompanied by dietary changes. Specifically for Bartter syndrome, the use of non-steroidal anti-inflammatory drugs is also strongly supported. This review aims to address the latest diagnostic challenges and therapeutic approaches, as well as relevant recent research on the biology of the proteins involved in disease. Finally, we highlight several objectives to continue advancing in the characterization of both etiologies.
format	article
author	Laura Nuñez-Gonzalez Noa Carrera Miguel A. Garcia-Gonzalez
author_facet	Laura Nuñez-Gonzalez Noa Carrera Miguel A. Garcia-Gonzalez
author_sort	Laura Nuñez-Gonzalez
title	Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians
title_short	Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians
title_full	Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians
title_fullStr	Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians
title_full_unstemmed	Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians
title_sort	molecular basis, diagnostic challenges and therapeutic approaches of bartter and gitelman syndromes: a primer for clinicians
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/f5e6aa1edb344b14b2e713f194859c3c
work_keys_str_mv	AT lauranunezgonzalez molecularbasisdiagnosticchallengesandtherapeuticapproachesofbartterandgitelmansyndromesaprimerforclinicians AT noacarrera molecularbasisdiagnosticchallengesandtherapeuticapproachesofbartterandgitelmansyndromesaprimerforclinicians AT miguelagarciagonzalez molecularbasisdiagnosticchallengesandtherapeuticapproachesofbartterandgitelmansyndromesaprimerforclinicians
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Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians

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