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Diseases

Genetic and Rare Diseases Information Center (GARD)

Gitelman syndrome


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

Gitelman syndrome is a kidney function disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.[1] It is usually diagnosed during late childhood or adulthood.[2] Symptoms and severity can vary widely. More common symptoms include muscle spasms or cramping, muscle weakness, and fatigue, sometimes accompanied by gastrointestinal problems such as abdominal pain, nausea and vomiting.[1][3] Some affected people may develop low blood pressure and/or a painful joint condition called chondrocalcinosis. Gitelman syndrome can be caused by changes (mutations) in the SLC12A3 or CLCNKB genes and is inherited in an autosomal recessive manner.[1][3] Treatment may include supplementation of potassium and magnesium, and a high sodium and high potassium diet.[2]
Last updated: 7/11/2016

References

  1. Gitelman syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/gitelman-syndrome.
  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.
  3. Gitelman Syndrome. NORD. 2015; http://rarediseases.org/rare-diseases/gitelman-syndrome/.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Gitelman syndrome.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gitelman syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
Other Names for this Disease
  • Potassium and magnesium depletion
  • Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
  • Familial hypokalemia-hypomagnesemia
  • Gitelman's syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.