Gitelman Syndrome

Common Name(s)

Gitelman Syndrome

Gitelman syndrome is a kidney condition that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. Signs and symptoms vary widely, and do not appear before six years of age. It is usually diagnosed during adolescence or adulthood. Common symptoms include painful muscle spasms (tetany), sometimes accompanied by abdominal pain, vomiting and fever; muscle weakness or cramping; dizziness; salt craving; and tingling or prickly sensations in the skin on the face (paresthesias). Some experience fatigue, low blood pressure, and a painful joint condition called chondrocalcinosis. It can be caused by mutations in the SLC12A3 or CLCNKB genes and is inherited in an autosomal recessive manner. Treatment may include supplementation of magnesium and a high-sodium and high potassium diet.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gitelman Syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gitelman Syndrome" returned 49 free, full-text research articles on human participants. First 3 results:

Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome.
 

Author(s): Xiaoyan Peng, Lanping Jiang, Chen Chen, Yan Qin, Tao Yuan, Ou Wang, Xiaoping Xing, Xuemei Li, Min Nie, Limeng Chen

Journal:

 

Gitelman syndrome (GS), an inherited autosomal recessive salt-losing renal tubulopathy caused by mutations in SLC12A3 gene, has been associated with normal prostaglandin E2 (PGE2) levels since 1995 by a study involving 11 clinically diagnosed patients. However, it is difficult to ...

Last Updated: 12 Jul 2017

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Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
 

Author(s): Anne Blanchard, Detlef Bockenhauer, Davide Bolignano, Lorenzo A Calò, Etienne Cosyns, Olivier Devuyst, David H Ellison, Fiona E Karet Frankl, Nine V A M Knoers, Martin Konrad, Shih-Hua Lin, Rosa Vargas-Poussou

Journal: Kidney Int.. 2017 Jan;91(1):24-33.

 

Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride ...

Last Updated: 22 Dec 2016

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Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation.
 

Author(s): Takeshi Kusuda, Tadashi Hosoya, Takayasu Mori, Katsuhito Ihara, Hidenori Nishida, Motoko Chiga, Eisei Sohara, Tatemitsu Rai, Ryuji Koike, Shinichi Uchida, Hitoshi Kohsaka

Journal: Intern. Med.. ;55(21):3201-3204.

 

A 36-year-old woman developed hypokalemic metabolic alkalosis after anti SS-A antibody was found to be positive. Diuretic loading test results were compatible with Gitelman syndrome (GS). The patient had a heterozygous mutation in SLC12A3, which encodes for thiazide-sensitive NaCl ...

Last Updated: 2 Nov 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Gitelman Syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Gitelman syndrome.
 

Author(s): Nine V A M Knoers, Elena N Levtchenko

Journal:

 

Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, ...

Last Updated: 20 Aug 2008

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[Pregnancy in a patient with Gitelman syndrome: a case report and review of literature].
 

Author(s): G Ducarme, C Davitian, M Uzan, X Belenfant, C Poncelet

Journal: J Gynecol Obstet Biol Reprod (Paris). 2007 May;36(3):310-3.

 

Gitelman syndrome (GS) is a tubulopathy characterized by hypokaliemia, hypomagnesiemia, metabolic alkalosis and hypocalciuria. We report a case of a 33-year-old pregnant woman with Gitelman Syndrome. Oral potassium chloride and magnesium citrate were prescribed and the course of the ...

Last Updated: 30 Apr 2007

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Gitelman-like syndrome after cisplatin therapy: a case report and literature review.
 

Author(s): Kessarin Panichpisal, Freddy Angulo-Pernett, Sharmila Selhi, Kenneth M Nugent

Journal:

 

Cisplatin is a well-known nephrotoxic antineoplastic drug. Chronic hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria is one of the rare complications associated with its use.

Last Updated: 22 Jun 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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