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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]
References
- Gitelman syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/gitelman-syndrome. Accessed October 10, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Gitelman syndrome have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Gitelman syndrome. Click on the link to go to GHR and review the 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 Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Gitelman syndrome. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Gitelman syndrome. Knoers NV, Levtchenko EN. Orphanet J Rare Dis. 2008 Jul 30;3:22. Review.