scholarly journals Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction?

2014 ◽  
Vol 29 (suppl 4) ◽  
pp. iv117-iv120 ◽  
Author(s):  
N. Demoulin ◽  
S. Aydin ◽  
J.-P. Cosyns ◽  
K. Dahan ◽  
G. Cornet ◽  
...  
Keyword(s):  
Sodium Chloride ◽  
Gitelman Syndrome ◽  
Sodium Chloride Cotransporter ◽  
Glomerular Proteinuria

scholarly journals Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation

2021 ◽  
Author(s):  
Maria Clara Novais de Matos ◽  
Fábio Correia ◽  
Maria Inês Silva ◽  
Sofia Carola ◽  
Ana Órfão ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Sodium Chloride ◽  
Metabolic Alkalosis ◽  
Rare Case ◽  
Novel Mutation ◽  
Gitelman Syndrome ◽  
Clinical Approach ◽  
Slc12a3 Gene ◽  
Sodium Chloride Cotransporter ◽  
Renal Tubulopathy

Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter. GS is characterized by hypokalaemia, hypomagnesaemia and metabolic alkalosis. Treatment is based on potassium and magnesium replacement ad eternum. We present the case of a young man with palpitations and persistent hypokalaemia, who was diagnosed with GS. Genetic testing revealed 2 mutations in the gene SLC12A3 of combined heterozygosity, both considered pathological. Interestingly, 1 of these mutations was not yet described in the literature or in the reviewed databases. We also discuss the clinical approach and the specificities of managing this rare hereditary renal tubulopathy.

A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome

2006 ◽  
Vol 65 (01) ◽  
pp. 57-60 ◽  
Author(s):  
K. Terui ◽  
M. Shoji ◽  
J. Yamashiki ◽  
Y. Hirai ◽  
A. Ishiguro ◽  
...  
Keyword(s):  
Sodium Chloride ◽  
Novel Mutation ◽  
Gitelman Syndrome ◽  
Japanese Family ◽  
Sodium Chloride Cotransporter

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

1996 ◽  
Vol 10 (4) ◽  
pp. 403-407 ◽  
Author(s):  
Henny H. Lemmink ◽  
Lambert P. W. J. van den Heuvel ◽  
Henk A. van Dijk ◽  
Gerard F. M. Merkx ◽  
Tineke J. Smilde ◽  
...  
Keyword(s):  
Sodium Chloride ◽  
Gitelman Syndrome ◽  
Sodium Chloride Cotransporter

Abstract 076: Urinary Exosomal Epithelial Sodium Channel And Sodium-chloride Cotransporter Measurement In Humans

Hypertension ◽  
2014 ◽  
Vol 64 (suppl_1) ◽  
Author(s):  
TAOPHEEQ A MUSTAPHA ◽  
VICTOR NWAZUE ◽  
KEVIN SCHEY ◽  
RAJ SATISH ◽  
JAMES M LUTHER
Keyword(s):  
Sodium Chloride ◽  
Sodium Channel ◽  
Multiple Reaction Monitoring ◽  
Epithelial Sodium Channel ◽  
Sodium Balance ◽  
Sodium Reabsorption ◽  
Dependent Manner ◽  
Creatinine Concentration ◽  
Spot Urine ◽  
Sodium Chloride Cotransporter

Sodium reabsorption in the distal nephron is tightly regulated in part by epithelial sodium channel (ENaC) and sodium chloride cotransporter (NCC), although non-invasive measure of these proteins in humans has not previously been feasible. We recently analyzed the urinary exosomal proteome and identified candidate targets for quantification of ENaC and NCC using targeted mass spectrometry. To test the hypothesis that urinary exosomal ENaC and NCC are altered during renin-angiotensin-aldosterone system activation, we activated the endogenous RAAS using a low sodium diet (LS) in two separate studies. We provided 8 subjects LS diet (10mmol/day for 7days) to assess urinary protein excretion at 7 days (study 1) and longitudinally over the course of 1 week (study 2). Daily 24-hour urine was collected to monitor sodium balance, and spot urine samples were obtained each morning on days 0, 2, 4, and 6 of LS diet. Urinary exosomal ENaC-α, ENaC-γ, and NCC peptides were analyzed using targeted multiple-reaction-monitoring analysis quantified with stable-isotope peptide standards, and results were normalized to urine creatinine concentration. In study 1, urinary ENaCγ increased after 8 days of LS diet (Figure A). In study 2, urinary exosomal ENaCγ (Figure B) and NCC peptides (Figure C) increased in a time-dependent manner during LS diet. These measures of urinary sodium channel expression may provide further insight into distal sodium reabsorption in human hypertension.

Gitelman Syndrome in a Pregnant Woman

2021 ◽  
Author(s):  
Feifei Huo ◽  
Nan Li ◽  
Dong Zhang
Keyword(s):  
Treatment Guidelines ◽  
Case Reports ◽  
Serum Magnesium ◽  
Clinical Manifestations ◽  
Fetal Outcome ◽  
Gitelman Syndrome ◽  
Renal Tubules ◽  
Loss Of Function ◽  
Sodium Chloride Cotransporter ◽  
Laboratory Examinations

Abstract Background: Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing tubulopathy resulted from a loss-of-function mutation in the gene SLC12A3 encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT) protein located in the distal renal tubules. Investigations revealed hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and increased activity of renin-angiotensin-aldosterone system. There have been very few case reports on Gitelman syndrome in pregnancy, and some cases showed adverse consequences of the fetus.Case presentation: We presented a case report of a pregnant female with hypokalemia, a large amount of intravenous potassium was required to maintain a relatively normal level of serum potassium.Therefore, further laboratory examinations and whole blood DNA sequencing were carried out. The patient was eventually diagnosed with Gitelman syndrome. In terms of treatment, the amount of potassium supplementation was gradually reduced, and magnesium supplementation was intermittently provided at the same time to maintain the patient's serum potassium at about 3.0mmol/L and serum magnesium at about 0.8mmol/L. Obstetric ultrasound during hospitalization indicated normal fetal development, and the patient was discharged from hospital after her condition improved.Conclusions: The clinical manifestations of GS are non-specific, and there is a lack of evidence-based treatment guidelines for pregnant GS patients, so multidisciplinary management of pregnant GS women is essential. Treatment should be cautious and individual, and the electrolytes should be closely monitored to avoid complications caused by electrolyte disturbance and strive to obtain a good maternal and fetal outcome.

scholarly journals Norepinephrine-evoked salt-sensitive hypertension requires impaired renal sodium chloride cotransporter activity in Sprague-Dawley rats

2016 ◽  
Vol 310 (2) ◽  
pp. R115-R124 ◽  
Author(s):  
Kathryn R. Walsh ◽  
Jill T. Kuwabara ◽  
Joon W. Shim ◽  
Richard D. Wainford
Keyword(s):  
Blood Pressure ◽  
Sodium Chloride ◽  
Salt Sensitivity ◽  
Dietary Sodium ◽  
Ang Ii ◽  
Sprague Dawley ◽  
Sodium Chloride Cotransporter ◽  
Sprague Dawley Rats ◽  
Salt Sensitive Hypertension ◽  
The Impact

Recent studies have implicated a role of norepinephrine (NE) in the activation of the sodium chloride cotransporter (NCC) to drive the development of salt-sensitive hypertension. However, the interaction between NE and increased salt intake on blood pressure remains to be fully elucidated. This study examined the impact of a continuous NE infusion on sodium homeostasis and blood pressure in conscious Sprague-Dawley rats challenged with a normal (NS; 0.6% NaCl) or high-salt (HS; 8% NaCl) diet for 14 days. Naïve and saline-infused Sprague-Dawley rats remained normotensive when placed on HS and exhibited dietary sodium-evoked suppression of peak natriuresis to hydrochlorothiazide. NE infusion resulted in the development of hypertension, which was exacerbated by HS, demonstrating the development of the salt sensitivity of blood pressure [MAP (mmHg) NE+NS: 151 ± 3 vs. NE+HS: 172 ± 4; P < 0.05]. In these salt-sensitive animals, increased NE prevented dietary sodium-evoked suppression of peak natriuresis to hydrochlorothiazide, suggesting impaired NCC activity contributes to the development of salt sensitivity [peak natriuresis to hydrochlorothiazide (μeq/min) Naïve+NS: 9.4 ± 0.2 vs. Naïve+HS: 7 ± 0.1; P < 0.05; NE+NS: 11.1 ± 1.1; NE+HS: 10.8 ± 0.4). NE infusion did not alter NCC expression in animals maintained on NS; however, dietary sodium-evoked suppression of NCC expression was prevented in animals challenged with NE. Chronic NCC antagonism abolished the salt-sensitive component of NE-mediated hypertension, while chronic ANG II type 1 receptor antagonism significantly attenuated NE-evoked hypertension without restoring NCC function. These data demonstrate that increased levels of NE prevent dietary sodium-evoked suppression of the NCC, via an ANG II-independent mechanism, to stimulate the development of salt-sensitive hypertension.

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