Other Names for this Disease
- Familial hypokalemia-hypomagnesemia
- Gitelman's syndrome
- Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
- Potassium and magnesium depletion
- Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
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 Signs and symptoms vary widely, and do not appear before six years of age. It is usually diagnosed during adolescence or adulthood. 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. Treatment may include supplementation of magnesium and a high-sodium and high potassium diet.Gitelman syndrome is a kidney condition that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.
Last updated: 10/8/2014
- Gitelman syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/gitelman-syndrome. Accessed 10/10/2011.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.