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

Laura Nuñez-Gonzalez, Noa Carrera, Miguel A Garcia-Gonzalez

Journal: International journal of molecular sciences 2021;22(21):11414

PMID: 34768847

Abstract

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.

Address: Grupo de Xenetica e Bioloxia do Desenvolvemento das Enfermidades Renais, Laboratorio de Nefroloxia (No. 11), Instituto de Investigacion Sanitaria de Santiago (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain.; Grupo de Medicina Xenomica, Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain.; Grupo de Xenetica e Bioloxia do Desenvolvemento das Enfermidades Renais, Laboratorio de Nefroloxia (No. 11), Instituto de Investigacion Sanitaria de Santiago (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain.; Grupo de Medicina Xenomica, Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain.; RedInRen (Red en Investigación Renal) RETIC (Redes Temáticas de Investigación Cooperativa en Salud), ISCIII (Instituto de Salud Carlos III), 28029 Madrid, Spain.; Grupo de Xenetica e Bioloxia do Desenvolvemento das Enfermidades Renais, Laboratorio de Nefroloxia (No. 11), Instituto de Investigacion Sanitaria de Santiago (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain.; Grupo de Medicina Xenomica, Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain.; RedInRen (Red en Investigación Renal) RETIC (Redes Temáticas de Investigación Cooperativa en Salud), ISCIII (Instituto de Salud Carlos III), 28029 Madrid, Spain.; Fundación Pública Galega de Medicina Xenomica-SERGAS, Complexo Hospitalario de Santiago de Compotela (CHUS), 15706 Santiago de Compostela, Spain.

DOI: 10.3390/ijms222111414

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MeSH Terms: Bartter Syndrome, Electrolytes, Gitelman Syndrome, Humans, Hyperaldosteronism, Hypercalciuria, Hypokalemia, Hyponatremia, Kidney Tubules, Distal, Loop of Henle, Nephrocalcinosis, Renal Tubular Transport, Inborn Errors, Water-Electrolyte Balance