Bartter's Syndrome

Bartter's Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Bartter's Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Aldosteronism With Normal Blood Pressure
  • Hyperaldosteronism With Hypokalemic Alkatosis
  • Hyperaldosteronism Without Hypertension
  • Juxtaglomerular Hyperplasia
  • Hypokalemic Alkalosis with Hypercalciuria

Disorder Subdivisions

  • None

General Discussion

Bartter's syndrome (BS) is a group of conditions involving enlargement of certain kidney cells, blood that is more alkaline than normal, high levels of potassium and chloride in the urine, loss of potassium from the kidneys (renal potassium wasting), dehydration, muscle weakness, muscle cramps, frequent urination, and growth deficiency, potentially resulting in dwarfism. It is thought to be caused by a defect in the body's ability to reabsorb potassium. Individuals with Bartter syndrome have a disturbed acid-base ratio (i.e., an accumulation of base or loss of acid) associated with a loss of potassium (hypokalemic alkalosis). Low amounts of potassium may result from overproduction of a certain hormone (aldosterone) that is essential in controlling blood pressure and regulating sodium and potassium levels (hyperaldosteronism). Even so, the blood pressure of people with Bartter syndrome is normal.

Symptoms

Symptoms and their intensity vary among the various types of Bartter's syndrome. In general, the syndrome is characterized by growth deficiency, potentially resulting in short stature; muscle weakness, cramps, and/or loss of potassium from the kidneys (renal potassium wasting).



Loss of potassium may result from overproduction of a certain hormone (aldosterone) that is essential in controlling blood pressure and regulating sodium and potassium levels (hyperaldosteronism). Low potassium levels may be associated with a disturbance in an affected individual's acid-base ratio (i.e., an accumulation of base or loss of acid). This is known as hypokalemic alkalosis.



Specific signs and symptoms associated with Bartter's syndrome include normal blood pressure, low blood chloride; blood that is more alkaline than normal, high blood levels of the hormones rennin and aldosterone, both of which are involved in the regulation of potassium by the kidney; and high levels of potassium and chloride in the urine.



Of the various types of this syndrome, the one known as Gitelman syndrome appears generally to be the mildest and to present later in life, often in adults without symptoms (asymptomatic) who are found to have lack or loss of potassium (hypokalemia) on routine laboratory testing.



The type called classic Bartter's syndrome usually presents in infants. Symptoms of the classic type may include salt craving, fatigue, muscle weakness, growth retardation and developmental delay.



The type known as antenatal Bartter's syndrome is the most severe and may become life-threatening. In the newborn, it may present with fever, vomiting, diarrhea, failure to thrive, growth retardation, facial anomalies such as a triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth, severe electrolyte imbalance; and high potassium and chloride excretion in the urine.

Causes

Bartter's syndrome is thought to be caused by a defect in the body's ability to reabsorb potassium. As a result, an excessive amount of potassium is excreted from the body. This is known as potassium wasting.



Bartter's syndrome is usually hereditary and the pattern of inheritance is autosomal recessive. In recent years, researchers have worked to identify the genes associated with the various forms of this syndrome, including subgroups within the antenatal group.



Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered.



Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.



Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.



All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Affected Populations

Bartter's syndrome affects children much more frequently than adults, but it has been reported to occur at all ages. Males and females are affected in equal numbers. The neonatal form of the disorder may be suspected before birth and may be diagnosed in the youngest of newborns. There is no racial, ethnic, or gender predilection.

Standard Therapies

Diagnosis

The diagnosis of Bartter syndrome is usually made on the basis of the results of blood tests. If Bartter syndrome is suspected, the potassium level in the blood will be tested. The combination of low blood potassium concentrations with normal blood pressure is a possible indicator of this disorder. Blood tests will also confirm low blood chloride, and that the blood acid/base balance is skewed towards the base, or that the blood is more alkaline than usual.



Tests to determine the concentration of the hormones renin and aldosterone may also be ordered. High blood levels of these hormones would support the diagnosis of Bartter syndrome.



Further confirmation comes from the high levels of potassium and chloride in the urine. Such signs suggest that the ability of the kidney to control the concentration of these electrolytes is failing or has been lost. These same signs and symptoms can also occur in people who have taken excessive amounts of diuretics or laxatives. Urine tests can be done to exclude these causes.



Treatment

Treatment of Bartter syndrome depends on the type of the syndrome that is present but focuses primarily on preventing the loss of excessive amounts of potassium. This may include medications, supplements, and a diet rich in potassium. Genetic counseling may be of benefit for patients and their families.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Hodgson DM, Zingman LV, Terzic A. Bartter Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:309-11.



Kasper, DL, Fauci AS, Longo DL, et al., eds. Harrison's Principles of Internal Medicine. 16th ed. McGraw-Hill Companies. New York, NY; 2005:1697-98.



Larsen PR, Kronenberg HM, Melmed S, Polonsky KS, eds. Williams Textbook of Endocrinology. 10th ed. Elsevier Saunders. Philadelphia, PA. 2003:578-79.



Scriver CR, Beaudet AL, Sly WS, et al., eds. The Metabolic Molecular Basis of Inherited Disease. 8th ed. McGraw-Hill Companies. New York, NY; 2001:5409-11.



REVIEW ARTICLES

Calo LA. Vascular tone control in humans: insights from studies in Bartter's/Gitelman's syndromes. Kidney Int. 2006;69:963-66.



Landau D. Potassium handling in health and disease: lessons from inherited tubulopathies. Pediatr Endocrinol Rev. 2004;2:203-08.



Reinalter SC, Jeck N, Peters M, Seyberth HW. Pharmacotyping of hypokalaemic salt-losing tubular disorders. Acta Physiol Scand. 2004;181:513-21.



Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D. Barter's and Gitelman's syndromes: from gene to clinic. Nephron Physiol. 2004;106:p65-78.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Bartter Syndrome, Antenatal, Type 1. Entry Number; 60178: Last Edit Date; 5/26/2005.



McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Bartter Syndrome, Antenatal, Type 2. Entry Number; 241200: Last Edit Date; 6/3/2005.



McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Bartter Syndrome, Type 3. Entry Number; 607364: Last Edit Date; 11/17/2005.



McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Bartter Syndrome, Infantile, with Sensorineural Deafness. Entry Number; 602522: Last Edit Date;.



McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Calcium-Sensing Receptor; CASR. Entry Number; 601199: Last Edit Date; 12/20/2005.



Bartter's syndrome. Medical Encyclopedia. MedlinePlus. Update Date: 11/10/2004. 3pp.

www.nlm.nih.gov/medlineplus/ency/article/000308.htm



Colusi G. Bartter syndrome. Orphanet encyclopedia. March 2005. 6pp.

www.orpha.net/data/patho/GB/uk-Bartter.pdf



Devarajan P, Imam A. Bartter Syndrome. emedicine. Last Updated: February 9, 2006. 8pp.

www.emedicine.com/ped/topic210.htm

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org



American Kidney Fund, Inc.

11921 Rockville Pike

Suite 300

Rockville, MD 20852

USA

Tel: (800)638-8299

Email: helpline@kidneyfund.org

Internet: http://www.kidneyfund.org



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

Internet: http://www.kidney.org



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



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

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Bartter Site

Internet: http://www.BartterSite.org and http://health.groups.yahoo.com/group/barttersyndrome/



For a Complete Report

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