Learn About Gitelman Syndrome

What is the definition of Gitelman Syndrome?

Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.

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What are the causes of Gitelman Syndrome?

Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. Less often, the condition results from mutations in the CLCNKB gene. The proteins produced from these genes are involved in the kidneys' reabsorption 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.

How prevalent is Gitelman Syndrome?

Gitelman syndrome affects an estimated 1 in 40,000 people worldwide.

Is Gitelman Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, 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.

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What are the latest Gitelman Syndrome Clinical Trials?
Exploratory Study Into the Effect of Salt Supplementation in Gitelman Syndrome

Summary: The purpose of this study is to determine the effect of salt (NaCl) supplementation on serum potassium and clinical signs and symptoms in patients with Gitelman syndrome.

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Who are the sources who wrote this article ?

Published Date: February 01, 2011Published By: National Institutes of Health

What are the Latest Advances for Gitelman Syndrome?
The Dietary Approach to the Treatment of the Rare Genetic Tubulopathies Gitelman's and Bartter's Syndromes.
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