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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Gitelman syndrome


Other Names for this Disease

  • Familial hypokalemia-hypomagnesemia
  • Gitelman's syndrome
  • Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
  • Potassium and magnesium depletion
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Overview

What is Gitelman syndrome?

How is Gitelman syndrome inherited?

What is 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.[1] Signs and symptoms vary widely, and do not appear before six years of age. It is usually diagnosed during adolescence or adulthood.[2] 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.[1] Treatment may include supplementation of magnesium and a high-sodium and high potassium diet.[2]
Last updated: 10/8/2014

How is Gitelman syndrome inherited?

Gitelman syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 10/8/2014

References
  1. Gitelman syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/gitelman-syndrome. Accessed 10/10/2011.
  2. Nine VAM Knoers and Elena N Levtchenko. Gitelman syndrome. Orphanet Journal of Rare Diseases. 2008; 3:22:http://www.ojrd.com/content/3/1/22. Accessed 10/8/2014.


Other Names for this Disease
  • Familial hypokalemia-hypomagnesemia
  • Gitelman's syndrome
  • Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
  • Potassium and magnesium depletion
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.