Gitelman Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Gitelman Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary
Gitelman syndrome, also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder in which there is a specific defect in kidney function. This defect impairs the kidney's ability to reabsorb salt and causes imbalances in various electrolyte and fluid concentrations in the body. The electrolytes affected are primarily mineral salts such as potassium, calcium, magnesium, sodium, and chloride. The symptoms and severity of the disorder can vary greatly from one person to another and can range from mild to severe. Symptoms and severity can even vary greatly among members of the same family. Common symptoms can include episodes of fatigue, muscle weakness, and muscle cramps sometimes accompanied by gastrointestinal problems such as abdominal pain, nausea and vomiting. Some individuals may need to urinate frequently and will pass a large amount of urine (polyuria). Most cases of Gitelman syndrome are caused by mutations in the SLC12A3 gene and are inherited in an autosomal recessive manner.

Introduction
Gitelman syndrome is often discussed along with the Bartter syndromes, a group of several disorders characterized by similar defects in kidney function and causing similar symptoms as is seen in Gitelman syndrome. Sometimes known as a variant of Bartter syndrome, Gitelman syndrome can show significant overlap with Bartter syndrome type 3; in specific cases, it is extremely difficult to distinguish these disorders. Some researchers believe it is better to consider the Bartter syndromes and Gitelman syndrome as a spectrum of disease rather than distinct disorders. These disorders may be broadly classified as renal tubulopathies (because certain small tubes within the kidneys are affected), salt-wasting disorders (because affected individuals excrete excess amounts of salt), salt-losing tubulopathies, and channelopathies (because the ion channels in the kidneys are affected).
Most medical sources will use specific terminology to describe the electrolyte imbalances that characterize Gitelman syndrome. These terms refer to findings on laboratory tests rather than specific symptoms. Such terms include low levels of potassium in the blood (hypokalemia), low levels of chloride in the blood (hypochloremia), excess alkaline levels in the body (metabolic alkalosis), low levels of magnesium in the blood (hypomagnesemia), low levels of calcium in the urine (hypocalciuria), high levels of renin in the blood (hyperreninemia), and high levels of aldosterone in the blood (hyperaldosteronemia).

Supporting Organizations

American Kidney Fund, Inc.

11921 Rockville Pike
Suite 300
Rockville, MD 20852
USA
Tel: (800)638-8299
Email: helpline@kidneyfund.org
Website: http://www.kidneyfund.org

Bartter Site

Website: http://barttersite.org/

Bartter Syndrome Foundation

9401 Firestone Drive
Warren, OH 44484
USA
Email: liliya@barttersyndromefoundation.org
Website: http://www.barttersyndromefoundation.org/index.php/en/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison
Bldg 31, Rm 9A06
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Website: http://www2.niddk.nih.gov/

National Kidney Foundation

30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010
Email: info@kidney.org
Website: http://www.kidney.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  8/21/2015
Copyright  2015 National Organization for Rare Disorders, Inc.