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<span>Gitelman syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/gitelman-syndrome/</span>
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<a name="start" id="start"></a>
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<h1>Gitelman syndrome</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
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<h2>Description</h2>
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<section><div class="mp-content"><p>Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.</p><p>The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paresthesias), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.</p><p>The signs and symptoms of Gitelman syndrome vary widely, even among affected members of the same family. Most people with this condition have relatively mild symptoms, although affected individuals with severe muscle cramping, paralysis, and slow growth have been reported.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>Gitelman syndrome affects an estimated 1 in 40,000 people worldwide.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Gitelman syndrome is usually caused by mutations in the <i><a data-pid="18601" href="https://medlineplus.gov/genetics/gene/slc12a3/">SLC12A3</a></i> gene. Less often, the condition results from mutations in the <i><a data-pid="18595" href="https://medlineplus.gov/genetics/gene/clcnkb/">CLCNKB</a></i> gene. The proteins produced from these genes are involved in the kidneys' <a class="image-modal" data-alt="Blood with waste materials enters the kidney and is filtered in the glomeruli. From the glomeruli, the fluid containing waste products travels to the ureter and the filtered blood exits the kidney." data-caption="" data-credit="Mr. High Sky/Shutterstock.com" data-filepath="images/PX0000LG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000LG" data-sourceurl="" data-title="Kidney filtration" href="https://medlineplus.gov/images/PX0000LG_PRESENTATION.jpeg" id="PX0000LG_3" title="Show image">reabsorption<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> of salt (sodium chloride or NaCl) from urine back into the bloodstream. Mutations in either gene impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other ions, including ions of potassium, magnesium, and calcium. The resulting imbalance of ions in the body underlies the major features of Gitelman syndrome.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the genes associated with Gitelman syndrome</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/clcnkb/">CLCNKB</a></li>
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<li><a href="https://medlineplus.gov/genetics/gene/slc12a3/">SLC12A3</a></li>
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</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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<h2>Inheritance</h2>
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<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
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<h2>Other Names for This Condition</h2>
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<section>
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<ul class="bulletlist">
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<li>Familial hypokalemia-hypomagnesemia</li> <li>Gitelman's syndrome</li> <li>GS</li> <li>Hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria</li> <li>Tubular hypomagnesemia-hypokalemia with hypocalcuria</li>
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</ul>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="resources">
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<h2>Additional Information & Resources</h2>
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<section>
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<div class="mp-content">
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<h2>Genetic Testing Information</h2>
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<ul>
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<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0268450/" target="TheNewWin">Genetic Testing Registry: Familial hypokalemia-hypomagnesemia</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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</ul>
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</div>
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</section>
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<section>
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<div class="mp-content">
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<h2>Genetic and Rare Diseases Information Center</h2>
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<ul>
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<li><a href="https://rarediseases.info.nih.gov/diseases/8547/index" target="TheNewWin">Gitelman syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
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</div>
|
||
</section>
|
||
|
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<section>
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||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Clinical Trials</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://clinicaltrials.gov/search?cond=%22Gitelman syndrome%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
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</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/263800" target="TheNewWin">GITELMAN SYNDROME; GTLMNS</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Gitelman+Syndrome%5BMAJR%5D%29+AND+%28Gitelman*%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB; Yale Gitelman's and Bartter's
|
||
Syndrome Collaborative Study Group. Gitelman's syndrome revisited: an evaluation
|
||
of symptoms and health-related quality of life. Kidney Int. 2001 Feb;59(2):710-7.
|
||
doi: 10.1046/j.1523-1755.2001.059002710.x. <a href="https://pubmed.ncbi.nlm.nih.gov/11168953" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Enriquez R, Adam V, Sirvent AE, Garcia-Garcia AB, Millan I, Amoros F. Gitelman
|
||
syndrome due to p.A204T mutation in CLCNKB gene. Int Urol Nephrol. 2010
|
||
Dec;42(4):1099-102. doi: 10.1007/s11255-010-9850-4. Epub 2010 Oct 8. <a href="https://pubmed.ncbi.nlm.nih.gov/20931281" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW. Mutations in the
|
||
chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.
|
||
Pediatr Res. 2000 Dec;48(6):754-8. doi: 10.1203/00006450-200012000-00009. <a href="https://pubmed.ncbi.nlm.nih.gov/11102542" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul
|
||
30;3:22. doi: 10.1186/1750-1172-3-22. <a href="https://pubmed.ncbi.nlm.nih.gov/18667063" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518128/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Knoers NV. Gitelman syndrome. Adv Chronic Kidney Dis. 2006 Apr;13(2):148-54.
|
||
doi: 10.1053/j.ackd.2006.01.014. <a href="https://pubmed.ncbi.nlm.nih.gov/16580616" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O. Gitelman's syndrome: towards
|
||
genotype-phenotype correlations? Pediatr Nephrol. 2007 Mar;22(3):326-32. doi:
|
||
10.1007/s00467-006-0321-1. Epub 2006 Oct 24. <a href="https://pubmed.ncbi.nlm.nih.gov/17061123" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
</ul>
|
||
|
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|
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data-title="Male and female urinary system"
|
||
data-caption="Anatomy of the male urinary system (left panel) and female urinary system (right panel) showing the kidneys, ureters, bladder, and urethra. Urine is made in the renal tubules and collects in the renal pelvis of each kidney. The urine flows from the kidneys through the ureters to the bladder. The urine is stored in the bladder until it leaves the body through the urethra."
|
||
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|
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<li><a href="https://medlineplus.gov/genetics/understanding/inheritance/inheritancepatterns/">What are the different ways a genetic condition can be inherited?</a></li>
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