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1994-01-17
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$Unique_ID{BRK03984}
$Pretitle{}
$Title{Medullary Cystic Disease}
$Subject{Medullary Cystic Disease Familial Juvenile Nephronophthisis
Renal-retinal Dysplasia }
$Volume{}
$Log{}
Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.
226:
Medullary Cystic Disease
** IMPORTANT **
It is possible the main title of the article (Medullary Cystic Disease)
is not the name you expected. Please check the SYNONYMS listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Familial Juvenile Nephronophthisis
Renal-retinal Dysplasia
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.
Medullary Cystic disease is a diffuse kidney disease, either genetic or
congenital in origin, which usually appears in children or young adults
(juvenile nephropthisis). It is characterized by a gradual increase of urea
and other by-products of protein breakdown in the blood (uremia) due to
progressive failure of kidney function.
Symptoms
Symptoms of Medullary Cystic disease usually begin during the first two
decades of life, though the disease has been observed in patients in their
sixties. Passing large amounts of urine (polyuria) due to the inability of
the kidneys to concentrate the salts dissolved in the urine is often the
earliest symptom; this condition is resistant to treatment with vasopressin.
Patients commonly pass excessive amounts of sodium in the urine which may be
severe enough to require extra sodium intake to prevent extracellular volume
depletion. Acidity of the body tissue (acidosis) with or without relatively
high chloride in the blood (hyperchloremia) may be present. Retarded growth
and evidence of bone disease are common in these children.
In many patients, these problems develop slowly over a period of years;
the body may, in fact, compensate for the problems so much that they are not
recognized until significant uremia symptoms appear later in life due to
kidney failure (uremia).
Laboratory findings are similar to those in patients with chronic renal
failure. Protein in the urine (proteinuria) is minimal or absent, and the
urinary sediment is not remarkable. X-rays of the urinary tract demonstrates
only small kidneys, but ultrasound and special X-rays (arteriography) may
reveal medullary cysts.
Causes
Medullary Cystic disease is possibly a recessive hereditary disorder. (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 from each parent. If one
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.)
Affected Population
Fifty percent of patients with Medullary Cystic disease are diagnosed in
childhood.
Related Disorders
Medullary Sponge Kidney is characterized by tubular dilatation or faulty
development of the collecting tubules of the kidney. It leads to urinary
stasis and kidney stones (nephrocalcinosis).
Polycystic Kidney disease is an inherited kidney disorder characterized
by many bilateral cysts which cause enlargement of the kidney size, while
reducing, by compression, the normal functioning kidney tissue.
Therapies: Standard
The treatment of Medullary Cystic disease consists of careful management of
uremia when it occurs. Diet must be carefully monitored. An increase of
caloric intake should be coupled with a reduction in the total content of
dietary protein. Sufficient carbohydrates and fats should be consumed to
provide energy and prevent the body from metabolizing its own proteins.
Therapies: Investigational
This disease entry is based upon medical information available through
January 1990. 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 Medullary Cystic Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Kidney and Urologic Diseases Information Clearinghouse
Box NKUDIC
Bethesda, MD 20892
(301) 468-6345
The National Kidney Foundation
2 Park Ave.
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)
For information on genetics and genetic counseling referrals, please
contact:
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
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme
Research Laboratories, 1987. P. 1631.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 645-8.