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Genetic and Rare Diseases Information Center (GARD)

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Gitelman syndrome


Other Names for this Disease

  • Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
  • Potassium and magnesium depletion
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Overview

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 usually appear in late childhood or adolescence and vary widely. Most affected individuals have relatively mild symptoms. Common symptoms include painful muscle spasms (tetany), 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 is caused by mutations in the SLC12A3 or CLCNKB genes and is inherited in an autosomal recessive manner.[1]
Last updated: 11/25/2011

References

  1. Gitelman syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/gitelman-syndrome. Accessed 10/10/2011.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The 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
  • 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.