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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 54 free, full-text research articles on human participants. First 3 results:

Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis.
 

Author(s): Christine Zomer Dal Molin, Daisson José Trevisol

Journal: J Bras Nefrol. ;39(3):337-340.

 

The main causes of hypokalemia are usually evident in the clinical history of patients, with previous episodes of vomiting, diarrhea or diuretic use. However, in some patients the cause of hypokalemia can become a challenge. In such cases, two major components of the investigation ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.
 

Author(s): Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya, Vajira Harshadeva Weerabaddana Dissanayake

Journal:

 

Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney.

Last Updated: 31 Dec 1969

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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 5 free, full-text review articles on human participants. First 3 results:

Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review.
 

Author(s): Xiangchen Gu, Zheling Su, Min Chen, Yanqiu Xu, Yi Wang

Journal: Nephrology (Carlton). 2017 Aug;22(8):652-655.

 

Acquired Gitelman's syndrome (GS) associated with Sjögren syndrome (SS) is rare. A 50-year-old woman was admitted to our department because of nausea, acratia and sicca complex. Laboratory tests after admission showed renal failure, hypokalaemia, metabolic alkalosis, hypomagnesaemia ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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