CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0367/03671.txt

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$Unique_ID{BRK03671}
$Pretitle{}
$Title{Drash Syndrome}
$Subject{Drash Syndrome Denys-Drash Syndrome
Nephropathy-Pseudohermaphroditism-Wilms Tumor Pseudohermaphroditism-Nephron
Disorder-Wilms Tumor Wilms Tumor and Pseudohermaphroditism Wilms
tumor-Pseuodohermaphroditism-Glomerulopathy Wilms
Tumor-Pseudohermaphroditism-Nephropathy Congenital Adrenal Hyperplasia
Klinefelter Syndrome 17-Beta Hydroxysteroid Dehydrogenase Deficiency
Reifenstein Syndrome Wilms' Tumor}
$Volume{}
$Log{}

Copyright (C) 1993 National Organization for Rare Disorders, Inc.

954:
Drash Syndrome

** IMPORTANT **
It is possible that the main title of the article (Drash Syndrome) is not
the name you expected.  PLease check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Denys-Drash Syndrome
     Nephropathy-Pseudohermaphroditism-Wilms Tumor
     Pseudohermaphroditism-Nephron Disorder-Wilms Tumor
     Wilms Tumor and Pseudohermaphroditism
     Wilms tumor-Pseuodohermaphroditism-Glomerulopathy
     Wilms Tumor-Pseudohermaphroditism-Nephropathy

Information on the following diseases can be found in the Related
Disorders section of this report:

     Congenital Adrenal Hyperplasia
     Klinefelter Syndrome
     17-Beta Hydroxysteroid Dehydrogenase Deficiency
     Reifenstein Syndrome
     Wilms' Tumor

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.

Drash Syndrome is a very rare disorder that typically appears for no
apparent reason (sporadically).  In rare cases it may be inherited as an
autosomal dominant trait.  This disorder usually appears early in life.  In
it's complete form it is characterized by the combination of abnormal kidney
function, genital abnormalities (pseudohermaphroditism), and a cancerous
tumor of the kidney called a Wilms' tumor.  Some patients may have the
incomplete form of Drash Syndrome which consists of abnormal kidney function
with either genital abnormalities (pseudohermaphroditism) or Wilms' tumor.
This disorder predominantly affects males but a few female cases have been
reported.

Symptoms

Major symptoms of the complete form of Drash Syndrome are abnormal kidney
function, a cancerous tumor of the kidney called a Wilms' Tumor, and a
condition in which a person has the body traits of both sexes along with
either male testicles or female ovaries (pseudohermaphroditism).  When a
patient has the incomplete form of Drash Syndrome abnormal kidney function
with either pseudohermaphroditism or Wilms' Tumor are present.

Kidney disease of Drash Syndrome often leads to complete malfunctioning
of the kidney's which requires maintenance on hemodialysis or an organ
transplant.

Wilms' Tumor, which is one of the characteristics of Drash Syndrome, is
the most common form of kidney cancer in children.  The exact cause is not
known although it is thought to be inherited in some cases.  Abdominal
swelling is the most common symptom typically leading to early detection.
Other signs of Wilms' Tumor may include blood in the urine, low-grade fever,
loss of appetite, paleness, weight loss, and/or lethargy.  (For more
information on this disorder choose "Wilms' Tumor" as your search term in the
Rare Disease Database).

Pseudohermaphroditism is another symptom of Drash Syndrome.  This is a
condition in which a person has the body traits of both sexes though having
either male testicles or female ovaries.  Males with this disorder may not
develop external sexual organs until puberty.

Some patients with Drash Syndrome may develop malignancies of the testes
or ovaries; abnormalities of the reproductive and urinary systems; an
abnormal backflow of urine from the bladder to the tubes that carry urine
from the kidney into the bladder (vesicoureteral reflux); swelling in the
pelvis due to urine that cannot flow past a blockage in the tubes that carry
urine from the kidney into the bladder and/or cyst formation
(hydronephrosis).

Causes

Most cases of Drash Syndrome appear for no apparent reason (sporadically).
There have been some cases thought to be inherited as an autosomal dominant
trait.  Human traits, including the classic genetic diseases, are the product
of the interaction of two genes, one received from the father and one from
the mother.  In dominant disorders a single copy of the disease gene
(received from either the mother or father) will be expressed "dominating"
the other normal gene and resulting in the appearance of the disease.  The
risk of transmitting the disorder from affected parent to offspring is fifty
percent for each pregnancy regardless of the sex of the resulting child.

Affected Population

Drash Syndrome is a very rare disorder that predominantly affects males
although the disorder has been reported in a few females.  There have been
approximately 30 cases described in the medical literature.

Related Disorders

Symptoms of the following disorders can be similar to those of Drash
Syndrome.  Comparisons may be useful for a differential diagnosis:

Congenital Adrenal Hyperplasia is a group of disorders resulting from
defective synthesis of the corticosteroid hormones of the adrenal gland.  The
adrenal gland becomes enlarged because it tries to produce more and more of
the hormones to compensate for their lack of effectiveness.  The adrenal
gland produces "male" sex hormones (androgens) in both males and females.
Because these are overproduced in certain forms of Congenital Adrenal
Hyperplasia, the external genitalia of some females with this disorder are
masculinized to various degrees.  Lack of glucocorticoids, especially
cortisol, causes various kinds of metabolic problems.  Lack of
mineralocorticoids, primarily aldosterone, causes salt and water imbalances.
(For more information on this disorder choose "Adrenal Hyperplasia" as your
search term in the Rare Disease Database).

Klinefelter Syndrome is a rare disorder resulting from too many X
chromosomes.  This disorder affects males only and is characterized by
unusually small testes, lack of sperm, enlarged mammary glands and an
abnormally small penis.  There may also be retardation of sex organ
development, an absence of facial and body hair, lack of muscular development
and a high pitched voice.  (For more information on this disorder, choose
"Klinefelter Syndrome" as your search term in the Rare Disease Database).

17-Beta Hydroxysteroid Dehydrogenase Deficiency (also known as 17-
Ketosteroid Reductase Deficiency and 17-Beta HSD) is a disorder in which the
production of steroids is impaired.  Male pseudohermaphroditism is present
and there is no enlargement of the adrenal gland.  This genetic defect is
inherited as either autosomal recessive or X-linked trait.

Reifenstein Syndrome is a hereditary form of male pseudohermaphroditism.
The male has testes but possesses both male and female sexual
characteristics.  The severity of androgen (male hormone) insensitivity
determines how this syndrome will present itself.  In mild cases of androgen
resistance, infertility may be the only symptom.  More severe cases may
result in hardening of the tubules in the testes, failure of one or both
testes to descend, an abnormal penis in which the urethra opens on the
underside, and development of male breasts.  The degree of feminization at
puberty is not as marked as in other forms of pseudohermaphroditism.  (For
more information on this disorder, choose "Reifenstein Syndrome" as your
search term in the Rare Disease Database).

Wilms' Tumor is the most common form of kidney cancer in children,
accounting for six to eight percent of all childhood cancers.  The exact
cause is not known, although it is thought to be inherited in some cases.
This disorder may occur alone or as a part of Drash Syndrome.  Abdominal
swelling is the most common symptom usually leading to early detection of the
disorder.  Other symptoms of Wilms' Tumor may be blood in the urine, low-
grade fever, loss of appetite, paleness, weight loss, and/or lethargy.  (For
more information on this disorder choose "Wilms" as your search term in the
Rare Disease Database).

Therapies:  Standard

Patients with progressive kidney failure can be maintained on dialysis, a
machine that cleanses toxins from the blood which would ordinarily leave the
body through urine.  Some patients may choose to undergo transplant surgery.

Removal of the ovaries or testes may be recommended to avoid malignancy.

Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.

Therapies:  Investigational

Research on birth defects and their causes is ongoing.  The National
Institutes of Health (NIH) is sponsoring the Human Genome Project which is
aimed at mapping every gene in the human body and learning why they sometimes
malfunction.  It is hoped that this new knowledge will lead to prevention and
treatment of genetic disorders in the future.

This disease entry is based upon medical information available through
June 1993.  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 Drash Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     The National Kidney Foundation
     2 Park Ave.
     New York, NY  10016
     [phone]
     [phone]

     American Kidney Fund
     6110 Executive Blvd., Suite 1010
     Rockville, MD  20852
     [phone]
     [phone]
     [phone] (in Maryland)

     American Cancer Society
     1599 Clifton Rd., NE
     Atlanta, GA  30329
     [phone]

     NIH/National Institute of Child Health and Human Development (NICHD)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Ave.
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  P. 984.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1780-81.

A CASE REPORT OF DRASH SYNDROME IN A 46,XX FEMALE:  T.L. Melocoton, et
al.;  Am J Kidney Dis (October, 1991, issue 18(4)).  Pp. 503-8.

A REPORT OF 4 PATIENTS WITH DRASH SYNDROME AND A REVIEW OF THE
LITERATURE:  J.C. Jensen, et al.; J Urol (May, 1989, issue 141(5)).  Pp. 174-
6.

THE DRASH SYNDROME REVISITED:  DIAGNOSIS AND FOLLOW-UP:  A.L. Friedman,
et al.; Am J Med Genet Suppl (1987, issue 3).  Pp. 293-6.