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$Unique_ID{BRK03516}
$Pretitle{}
$Title{Bartter's Syndrome}
$Subject{Bartter's Syndrome Aldosteronism With Normal Blood Pressure
Hyperaldosteronism Without Hypertension Juxtaglomerular Hyperplasia
Hyperaldosteronism With Hypokalemic Alkatosis Renal Tubular Acidosis (RTA)
Fanconi's Anemia}
$Volume{}
$Log{}
Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.
589:
Bartter's Syndrome
** IMPORTANT **
It is possible that the main title of the article (Bartter's Syndrome) is
not the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Aldosteronism With Normal Blood Pressure
Hyperaldosteronism Without Hypertension
Juxtaglomerular Hyperplasia
Hyperaldosteronism With Hypokalemic Alkatosis
Information on the following diseases can be found in the Related
Disorders section of this report:
Renal Tubular Acidosis (RTA)
Fanconi's Anemia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Bartter's Syndrome is a rare metabolic disease involving the kidneys.
Major symptoms may include slowed growth, weakness, excessive thirst and
excessive urination.
Symptoms
Bartter's Syndrome is characterized by the excessive loss of potassium
through the kidneys. Too much of the enzyme known as renin is released into
the blood. Other symptoms may include mental retardation, weakness,
dwarfism, and cramping of the muscles in the legs and arms.
Causes
Some researchers believe the disorder may be inherited as an autosomal
recessive trait. (Human traits including the classic genetic diseases, are
the product of the interaction of two genes for that condition, one received
from the father and one from the mother. In recessive disorders, the
condition does not appear unless a person inherits the same defective gene
for the same trait from each parent. If a person receives one normal gene
and one gene for the disease, the person will be a carrier for the disease,
but usually will show no symptoms. The risk of transmitting the disease to
the children of a couple, both of whom are carriers for a recessive disorder,
is twenty-five percent. Fifty percent of their children will be carriers,
but healthy as described above. Twenty-five percent of their children will
receive both normal genes, one from each parent and will be genetically
normal).
Recent studies have indicated an increased prostaglandin synthesis by the
kidney or a defect in chloride reabsorption in the kidney.
Affected Population
Bartter's Syndrome affects children more frequently than adults but it has
been reported to occur at all ages. Males and females are affected in equal
numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Bartter's
Syndrome. Comparisons may be useful for a differential diagnosis:
Renal Tubular Acidosis (RTA) is characterized by the impaired ability of
the kidney to secrete hydrogen or to reabsorb bicarbonate which can lead to
chronic metabolic acidosis accompanied by potassium depletion. Softening of
the bones (osteomalacia) or rickets may also occur.
Fanconi's Anemia can be either inherited or acquired, and is often
associated with cystinosis, or renal proximal tubular dysfunction including,
sugar in the urine (glucosuria), phosphate in the urine (phosphaturia), amino
acids in the urine (aminoaciduria), and bicarbonate wasting. (For more
information on this disorder, choose "Fanconi" as your search term in the
Rare Disease Database).
Therapies: Standard
Treatment of Bartter's Syndrome consists of preventing the loss of excessive
amounts of potassium. Albumin and aldosterone antagonists are usually
prescribed. Other drugs that may be recommended are aspirin (Acetylsalicylic
acid), indomethacin plus spironolactone, or dyrenium. Genetic counseling may
be of benefit for patients and their families. Other treatment is
symptomatic and supportive.
Therapies: Investigational
The drug Emalapril is being tried on an experimental basis to treat Bartter's
Syndrome. It has been found to improve potassium serum levels in patients
with this disorder. More research is needed to determine long-term
effectiveness of this drug.
This disease entry is based upon medical information available through
December 1988. 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.
Resources
For more information on Bartter's Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Kidney Foundation
2 Park Avenue
New York, NY 10016
(212) 889-2210
(800) 622-9010
American Kidney Fund
6110 Executive Blvd., Suite 1010
Rockville, MD 20852
(301) 881-3052
(800) 638-8299
(800) 492-8361 (MD)
National Digestive Diseases Information Clearinghouse
Box NDDIC
Bethesda, MD 20892
(301) 468-6344
For Genetic Information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp.855.
THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et
al., eds.; McGraw Hill, 1983. Pp.1816-1817.
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown
and Co., 1987. Pp.810-817
THE JUXTAGLOMERULAR APPARATUS IN BARTTER'S SYNDROME AND RELATED
TUBULOPATHIES. AN IMMUNOCYTOCHEMICAL AND ELECTRON MICROSCOPIC STUDY. R.
Raugner, et al., Virchows Arch [A] (1988, issue 412 (5)). Pp. 459-470.
TOTAL BODY POTASSIUM IN BARTTER'S SYNDROME BEFORE AND DURING TREATMENT
WITH ENALAPRIL. A. van de Stolpe, et al., Nephron (1987, issue 45 (2)). Pp.
122-125.
RENAL TUBULAR REABSORPTION OF CHLORIDE IN BARTTER'S SYNDROME AND OTHER
CONDITIONS WITH HYPOKALEMIA. J. A. Rodriguez-Portales, et al., Clin Nephrol
(December, 1986, issue 26 (6)). Pp. 269-272.