Bartter and Gitelman Syndromes

Bartter's and Gitelman's syndrome are instances of autosomal inherited salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis, renal salt-wasting, and, characteristic of Gitelman's syndrome, hypocalciuria and hypomagnesemia. As a compensatory mechanism for the volume depletion, there is activation of the renin–angiotensin–aldosterone system, yet the clinical phenotype resulting is normotensive or even hypotensive. Here the molecular mechanisms are reported that underlie the clinical manifestation of the diseases, with a closer look at the angiotensin II signaling. This hormone, by inducing short- and long-term signaling, is the key regulator of mechanisms responsible for the pathophysiology of hypertension and its complications, such as cardiovascular remodeling and atherogenesis. The lack of hypertension and cardiovascular complications depict the mirror image of hypertension in Bartter's and Gitelman's syndrome. The overall clinical, biochemical, and molecular picture may therefore contribute to understanding the mechanisms involved in cardiovascular renal remodeling and to identifying additional potential significant targets of therapy.

• Publication year

  2019

• Venue

  Encyclopedia of Endocrine Diseases

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/B978-0-12-801238-3.65335-7
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome

  2017cited by this paper
• Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

  2017cited by this paper
• Endoplasmic reticulum–associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome

  2017cited by this paper
• Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor

  2016cited by this paper
• Angiotensin II and Cardiovascular-Renal Remodelling in Hypertension: Insights from a Human Model Opposite to Hypertension

  2015cited by this paper
• Adult presentation of Bartter syndrome type IV with erythrocytosis

  2015cited by this paper
• Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.

  2015cited by this paper
• Understanding the mechanisms of angiotensin II signaling involved in hypertension and its long-term sequelae: insights from Bartter's and Gitelman's syndromes, human models of endogenous angiotensin II signaling antagonism

  2014cited by this paper
• Increased level of p63RhoGEF and RhoA/Rho kinase activity in hypertensive patients

  2014cited by this paper
• Recent advances involving the renin–angiotensin system

  2012cited by this paper
• Endothelial progenitor cells relationships with clinical and biochemical factors in a human model of blunted angiotensin II signaling

  2011cited by this paper
• A new look at the renin-angiotensin system--focusing on the vascular system.

  2011cited by this paper
• Miscellaneous non-inflammatory musculoskeletal conditions. Bartter's and Gitelman's diseases.

  2011cited by this paper
• High angiotensin II state without cardiac remodeling (Bartter’s and Gitelman’s syndromes): Are angiotensin II type 2 receptors involved?

  2009cited by this paper
• Disease-causing dysfunctions of barttin in Bartter syndrome type IV.

  2009cited by this paper
• Absence of vascular remodelling in a high angiotensin-II state (Bartter's and Gitelman's syndromes): implications for angiotensin II signalling pathways.

  2008cited by this paper
• Myocardial perfusion defects in Bartter and Gitelman syndromes

  2008cited by this paper
• Linking inflammation and hypertension in humans: studies in Bartter's/Gitelman's syndrome patients

  2008cited by this paper
• Silencing regulator of G protein signaling-2 (RGS-2) increases angiotensin II signaling: insights into hypertension from findings in Bartter's/Gitelman's syndromes

  2008cited by this paper
• Angiotensin II cell signaling: physiological and pathological effects in the cardiovascular system.

  2007cited by this paper
• RGS Proteins: Swiss Army Knives in Seven-Transmembrane Domain Receptor Signaling Networks

  2007cited by this paper
• RhoA/Rho-kinase pathway: much more than just a modulation of vascular tone. Evidence from studies in humans.

  2007cited by this paper
• Rho kinases in cardiovascular physiology and pathophysiology.

  2006cited by this paper
• Targeting Rho and Rho-kinase in the treatment of cardiovascular disease.

  2006cited by this paper
• Hypoxia-induced upregulation of endothelial small G protein RhoA and Rho-kinase/ROCK2 inhibits eNOS expression.

  2006cited by this paper
• Reduced expression of regulator of G-protein signaling 2 (RGS2) in hypertensive patients increases calcium mobilization and ERK1/2 phosphorylation induced by angiotensin II

  2006cited by this paper
• Vascular tone control in humans: insights from studies in Bartter's/Gitelman's syndromes.

  2006cited by this paper
• Affinity-defining Domains in the Na-Cl Cotransporter

  2006cited by this paper
• Insulin signaling, glucose metabolism, and the angiotensin II signaling system: studies in Bartter's/Gitelman's syndromes.

  2006cited by this paper
• Cardioprotective mechanisms of Rho-kinase inhibition associated with eNOS and oxidative stress-LOX-1 pathway in Dahl salt-sensitive hypertensive rats

  2005cited by this paper
• Mechanisms of Reactive Oxygen Species–Dependent Downregulation of Insulin Receptor Substrate-1 by Angiotensin II

  2005cited by this paper
• Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters.

  2005cited by this paper
• Reduced mRNA and protein content of rho guanine nucleotide exchange factor (RhoGEF) in Bartter's and Gitelman's syndromes: relevance for the pathophysiology of hypertension.

  2005cited by this paper
• Diabetes induces p66shc gene expression in human peripheral blood mononuclear cells: relationship to oxidative stress.

  2005cited by this paper
• Rho-Kinase Is an Important Therapeutic Target in Cardiovascular Medicine

  2005cited by this paper
• Genetic Deletion of the p66Shc Adaptor Protein Protects From Angiotensin II–Induced Myocardial Damage

  2005cited by this paper
• Insulin resistance and hypertension.

  2004cited by this paper
• Inhibition of Rho-Kinase Leads to Rapid Activation of Phosphatidylinositol 3-Kinase/Protein Kinase Akt and Cardiovascular Protection

  2004cited by this paper
• Bartter’s and Gitelman’s Syndromes: From Gene to Clinic

  2004cited by this paper
• The ABCs of solute carriers: physiological, pathological and therapeutic implications of human membrane transport proteins

  2004cited by this paper
• Rho kinase and PAI-1 in Bartter's/Gitelman's syndromes: relationship to angiotensin II signaling

  2004cited by this paper
• Increased expression of regulator of G protein signaling-2 (RGS-2) in Bartter's/Gitelman's syndrome. A role in the control of vascular tone and implication for hypertension.

  2004cited by this paper
• Regulation of Heme Oxygenase-1 Expression through the Phosphatidylinositol 3-Kinase/Akt Pathway and the Nrf2 Transcription Factor in Response to the Antioxidant Phytochemical Carnosol*

  2004cited by this paper
• Regulator of G-protein signaling-2 mediates vascular smooth muscle relaxation and blood pressure

  2003cited by this paper
• The role of angiotensin II in regulating vascular structural and functional changes in hypertension

  2003cited by this paper
• Oxidative stress and cardiovascular injury: Part II: animal and human studies.

  2003cited by this paper
• Monocyte NADPH oxidase subunit p22(phox) and inducible hemeoxygenase-1 gene expressions are increased in type II diabetic patients: relationship with oxidative stress.

  2003cited by this paper
• RhoA Expression Is Controlled by Nitric Oxide through cGMP-dependent Protein Kinase Activation*

  2003cited by this paper
• Oxidative stress-related factors in Bartter's and Gitelman's syndromes: relevance for angiotensin II signalling.

  2003cited by this paper
• Sodium and calcium transport pathways along the mammalian distal nephron: from rabbit to human.

  2003cited by this paper
• Hypertension and prolonged vasoconstrictor signaling in RGS2-deficient mice.

  2003cited by this paper
• Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.

  2003cited by this paper
• Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.

  2003cited by this paper
• Electrocardiogram with prolonged QT interval in Gitelman disease.

  2002cited by this paper
• Rho-Kinase Mediates Hypoxia-Induced Downregulation of Endothelial Nitric Oxide Synthase

  2002cited by this paper
• Reduced content of alpha subunit of Gq protein content in monocytes of Bartter and Gitelman syndromes: relationship with vascular hyporeactivity.

  2002cited by this paper
• Extracellular calcium sensing and extracellular calcium signaling.

  2001cited by this paper
• Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes.

  2001cited by this paper
• Regulator of G protein signaling proteins: novel multifunctional drug targets.

  2001cited by this paper
• Theodore Cooper Lecture: Tissue angiotensin and pathobiology of vascular disease: a unifying hypothesis.

  2001cited by this paper
• Mutations in the Chloride Channel Gene, CLCNKB, Leading to a Mixed Bartter-Gitelman Phenotype

  2000cited by this paper
• NAD(P)H oxidase: role in cardiovascular biology and disease.

  2000cited by this paper
• Signal transduction mechanisms mediating the physiological and pathophysiological actions of angiotensin II in vascular smooth muscle cells.

  2000cited by this paper
• Increased endothelial nitric oxide synthase mRNA level in Bartter's and Gitelman's syndrome. Relationship to vascular reactivity.

  1999cited by this paper
• Reduced susceptibility to oxidation of low‐density lipoprotein in patients with overproduction of nitric oxide (Bartter's and Gitelman's syndrome)

  1998cited by this paper
• Role of nitric oxide and its intracellular signalling pathways in the control of Ca2+ homeostasis.

  1998cited by this paper
• Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

  1997cited by this paper
• A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

  1996cited by this paper
• Increased urinary NO2-/NO3- and cyclic guanosine monophosphate levels in patients with Bartter's syndrome: relationship to vascular reactivity.

  1996cited by this paper
• Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK

  1996cited by this paper
• Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2

  1996cited by this paper
• Endothelium-Derived Vasoactive Substances in Bartter's Syndrome

  1995cited by this paper
• A new familial disorder characterized by hypokalemia and hypomagnesemia.

  1966cited by this paper
• Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome.

  1962cited by this paper

• A Drosophila natural variation screen identifies NKCC1 as a substrate of NGLY1 deglycosylation and a modifier of NGLY1 deficiency

  2020cites this paper