Bartter's Syndrome

National Organization for Rare Disorders, Inc.

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

Disorder Subdivisions

  • None

General Discussion

Summary

Bartter syndrome is a general term for a group of rare genetic disorders in which there are specific defects in kidney function. These defects impair the kidney's ability to reabsorb salt and cause 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 Bartter syndrome vary from one person to another and can range from mild to severe. Age of onset of overt symptoms can range from before birth to adulthood. Bartter syndrome is caused by alterations (mutations) in one of several different genes. Most subtypes of Bartter syndrome are inherited in an autosomal recessive manner. Treatment is aimed at correcting the electrolyte imbalances through the use of supplements and certain medications such as nonsteroidal anti-inflammatories (NSAIDs) and diuretics.

 

 

Introduction

Bartter syndrome was first described in the medical literature in the 1960s by Dr. Frederic Bartter. Through the years, different terminology has been used to describe these disorders. Some researchers classify these disorders based on their clinical appearance, while others classify them based on the underlying mutated gene. The different terminology and classification systems can be confusing. Bartter syndrome can be variably classified as a renal tubulopathy (because certain small tubes within the kidneys are affected), a salt-wasting disorder (because affected individuals excrete excess amounts of salt), a salt-losing tubulopathy, and a channelopathy (because the ion channels in the kidneys are affected). Although Bartter syndrome can be broken down into subtypes based on the underlying gene or symptomatology, considerable overlap of symptoms and disease presentation exists among the subtypes and Bartter syndrome may be best thought of as spectrum of disease caused by several different gene mutations.

The most common classification system for these disorders is based upon the underlying genetic mutation: Batter syndrome type 1, type 2, type 3, type 4a and 4b as well as Gitelman syndrome. The term antenatal (before birth) Bartter syndrome refers to those cases who present before birth and is typically associated with types 1, 2, 4a and 4b. These disorders are also known as hyperprostaglandin E syndromes because they are associated with elevated levels of fatty compounds known as prostaglandins. Bartter syndrome type 3 is also known as classic Bartter syndrome. Gitelman syndrome, which has considerable clinical overlap with Bartter syndrome type 3, is often grouped with the Bartter syndromes. NORD has a separate report on Gitelman syndrome.

A new classification system classifies these disorders based upon the specific part of the kidney that is affected. This includes three subtypes – loop disorders (affecting the loop of Henle); DCT disorders (affecting the distal convoluted tube; and combined loop/DCT disorders. (For more information on these kidney structures see the Causes section below.) Loop disorders include Bartter syndromes type 1 and 2. DCT disorders includes Gitelman syndrome. Loop/DCT disorders include Bartter syndrome types 3, 4a and 4b.

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/

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

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:  3/7/2016
Copyright  2016 National Organization for Rare Disorders, Inc.