CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0381/03812.txt

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$Unique_ID{BRK03812}
$Pretitle{}
$Title{Hepatic Fibrosis, Congenital}
$Subject{Hepatic Fibrosis Congenital CHF Banti's Syndrome Caroli Syndrome
Gaucher's Disease Medullary Cystic Disease Medullary Sponge Kidney }
$Volume{}
$Log{}

Copyright (C) 1992 National Organization for Rare Disorders, Inc.

860:
Hepatic Fibrosis, Congenital

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

Synonyms

     CHF

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

     Banti's Syndrome
     Caroli Syndrome
     Gaucher's Disease
     Medullary Cystic Disease
     Medullary Sponge Kidney

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.

Congenital Hepatic Fibrosis is a rare disease that affects both the liver
and kidneys.  The patient is born with this disorder (congenital) and it is
thought to be inherited as an autosomal recessive trait.  The typical liver
abnormalities are an enlarged liver (hepatomegaly), increased pressure in the
venous system that carries blood from different organs to the liver (portal
hypertension), and fiberlike connective tissue that spreads over the liver
(hepatic fibrosis).  Many patients with Congenital Hepatic Fibrosis also have
polycystic kidney disease, which is characterized by cysts in the kidneys.
Bleeding from the gastrointestinal area (stomach and intestines) is the main
clinical problem in patients with Congenital Hepatic Fibrosis.

Symptoms

Congenital Hepatic Fibrosis usually presents itself in children, with the
obvious symptoms being a swollen abdomen, a firm slightly enlarged liver
and/or vomiting red blood due to bleeding in the stomach and intestines.

The main findings in Congenital Hepatic Fibrosis are identified through
diagnostic testing.  Many of the following signs are present in patients with
this disorder:

1.  Portal Hypertension - increased pressure in the venous system that
carries blood from multiple organs to the liver (portal system).  This
increased blood pressure is caused by blockage of this blood supply to the
liver due to excess connective tissue growth in the liver.  Portal
hypertension can cause enlargement of the spleen and swollen or dilated veins
of the esophagus.

2.  Hepatic Fibrosis - a fiberlike connective tissue that spreads through
the liver.

3.  Nephromegaly - enlarged kidney.

4.  Gastrointestinal Bleeding - bleeding from the stomach and intestines
which may cause the patient to vomit red blood.

5.  Polycystic Kidney Disease - an inherited disorder in which there are
cysts in both kidneys.  This causes enlargement of the total kidney size
while reducing the functional kidney tissue by compression.  (For more
information on this disorder choose "Polycystic Kidney Disease" as your
search term in the Rare Disease Database).

6.  Splenomegaly - an enlarged spleen.

Liver function tests are usually normal in patients with this disease.
The diagnosis of Congenital Hepatic Fibrosis is confirmed by a liver biopsy.

Causes

Congenital Hepatic Fibrosis is thought to be inherited as an autosomal
recessive 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 recessive disorders, the condition does not appear
unless a person inherits the same defective gene for the same trait 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 not show 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

Congenital Hepatic Fibrosis affects males and females in equal numbers.  This
disease is usually present in children and normally detected in the first ten
years of life.  The disorder is rare throughout the world.

Related Disorders

Symptoms of the following disorders can be similar to those of Congenital
Hepatic Fibrosis.  Comparisons may be useful for a differential diagnosis:

Banti's Syndrome is a rare disorder characterized by an abnormal
enlargement of the spleen resulting from a blood clot in the portal or
splenic vein or liver disease (cirrhosis).  Symptoms of this disorder may be
weakness, fatigue, anemia, an abnormal enlargement of the spleen, bleeding of
the esophagus and the passage of dark stools.  (For more information on this
disorder choose "Banti" as your search term in the Rare Disease Database).

Caroli Syndrome is a rare congenital liver disorder marked by enlargement
(dilatation) of the bile ducts inside the liver.  Major symptoms may include
abdominal pain, yellowing of the skin (jaundice) and fever.  Caroli Syndrome
is a birth defect of unknown cause.  (For more information on this disorder
choose "Caroli Syndrome" as your search term in the Rare Disease Database).

Gaucher's Disease is an inherited disease of lipid metabolism caused by
the failure to produce the enzyme glucocerebrosidase.  There are three types
of Gaucher's Disease - Type I, II and III.  All three are characterized by
the presence of Gaucher (lipid-laden) cells in the bone marrow and other
organs such as the spleen and liver.  Symptoms of this disorder may include
an enlarged spleen or liver, swollen abdomen, low blood count, bone pain or
deterioration, hyperextension of the head, deterioration of the nervous
system, seizures, abnormal eye movement and/or jerking motions of the limbs,
head and upper body.  (For more information on this disorder choose
"Gaucher's Disease" as your search term in the Rare Disease Database).

Medullary Cystic Disease is a kidney disease, either genetic or
congenital in origin, which usually appears in children or young adults.
This disorder 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.  (For more information on this disorder choose
"Medullary Cystic Disease" as your search term in the Rare Disease Database).

Medullary Sponge Kidney is characterized by dilation of the terminal
collecting ducts in the kidney.  Often small calcium oxalate stones appear in
the ducts.  This condition may affect one or both kidneys and is inherited as
an autosomal dominant trait.  (For more information on this disorder choose
"Medullary Sponge" as your search term in the Rare Disease Database).

Therapies:  Standard

Treatment of Congenital Hepatic Fibrosis is symptomatic and supportive.

To prevent gastrointestinal hemorrhage, portal hypertension may need to
be treated surgically.  Aspirin and alcohol should be avoided.

Treatment of Polycystic Kidney Disease consists of management of urinary
infections and secondary hypertension.  The kidney function may deteriorate
very slowly in some patients.  In general, kidney function is normal or
slightly impaired when congenital hepatic fibrosis is found along with
polycystic kidney disease in older children.  Patients eventually need
dialysis in order to remove toxins from the blood.

Transplantation of a kidney or liver may be indicated.

Genetic counseling may be of benefit for patients and their families.

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.

Research on Autosomal Recessive Polycystic Kidney Disease (ARPKD) that
affects children is being pursued by the following research team:

     Lisa M. Guay-Woodford, M.D.
     Norman D. Rosenblum, M.D.
     Kathy L. Jabs, M.D.
     William E. Harmon, M.D.
     E. William Harris, Jr., M.D., Ph.D.
     The Division of Nephrology
     The Children's Hospital
     300 Longwood Ave.
     Boston, MA  02115
     [phone]

This disease entry is based upon medical information available through
April 1992.  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 Congenital Hepatic Fibrosis, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     203-746-6518

     American Liver Foundation
     1425 Pompton Ave.
     Cedar Grove, N.J.  07009
     [phone]
     [phone]

     Children's Liver Foundation
     14245 Ventura Blvd.
     Suite 201
     Sherman Oaks, CA  91423

     Polycystic Kidney Disease Research Foundation
     20 West 9th Street
     Kansas City, MO  64105
     [phone]

     National Kidney and Urologic Diseases Information Clearinghouse
     Box NKUDIC
     Bethesda, MD  20892
     [phone]

     The National Kidney Foundation
     30 East 33rd Street
     New York, NY  10016
     [phone]
     [phone]

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

     National Association of Patients on Hemodialysis and Transplantation
     150 150 Nassau Street
     New York, NY  10038
     [phone]

For Genetic Information 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
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 1430-31.

CECIL TEXTBOOK OF MEDICINE, 19th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990.  Pp. 849.

THE KIDNEY, 4th Ed.; Barry M. Brenner, M.D. and Floyd C. Rector, Jr.,
M.D., Editors; W.B. Saunders Company, 1991.  Pp. 1670-72.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 861-62.