Skip to search formSkip to main contentSkip to account menu

Gitelman Syndrome

Known as: Potassium and Magnesium Depletion, Familial Hypokalemia-Hypomagnesemia, Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria 
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast… 
National Institutes of Health

Related topics

Related topics

22 relations
Autosomal recessive inheritanceCalcium pyrophosphate deposition diseaseDent's diseaseGeneralized muscle weakness

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2020
Highly Cited
2020
GITELMAN SYNDROME
Sindroma Gitelman, dikenal sebagai hipokalemia-hipomagnesemia familial, merupakan kelainan tubular autosom resesif yang ditandai… 
Review
2012
Review
2012
Understanding Bartter syndrome and Gitelman syndrome
BackgroundWe aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting… 
Highly Cited
2011
Highly Cited
2011
Spectrum of mutations in Gitelman syndrome.
Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which… 
Highly Cited
2009
Highly Cited
2009
EGF increases TRPM6 activity and surface expression.
Recent identification of a mutation in the EGF gene that causes isolated recessive hypomagnesemia led to the finding that EGF… 
Highly Cited
2007
Highly Cited
2007
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.
Gitelman syndrome (GS) is a recessive salt-losing tubulopathy that is caused by mutations in the SLC12A3 gene that encodes the… 
Highly Cited
2005
Highly Cited
2005
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
Inactivation mutations of the luminal thiazide-sensitive NaCl cotransporter (NCC) in the distal convoluted tubules or the… 
Highly Cited
2004
Highly Cited
2004
Altered renal distal tubule structure and renal Na(+) and Ca(2+) handling in a mouse model for Gitelman's syndrome.
Gitelman's syndrome, an autosomal recessive renal tubulopathy caused by loss-of-function mutations in the thiazide-sensitive NaCl… 
Review
2000
Review
2000
Mutations in the Chloride Channel Gene, CLCNKB, Leading to a Mixed Bartter-Gitelman Phenotype
Gitelman syndrome is an inherited renal disorder characterized by impaired NaCl reabsorption in the distal convoluted tubule and… 
Highly Cited
2000
Highly Cited
2000
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
ABSTRACT.: Inherited hypokalemic renal tubulopathies are differentiated into at least three clinical subtypes: (1) the Gitelman… 
Highly Cited
1991
Highly Cited
1991
Hypomagnesemia is common following cardiac surgery.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)