$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 (617) 735-6129 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 (201) 857-2626 (800) 223-0179 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 (816) 421-1869 National Kidney and Urologic Diseases Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 The National Kidney Foundation 30 East 33rd Street New York, NY 10016 (212) 689-2210 (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 Association of Patients on Hemodialysis and Transplantation 150 150 Nassau Street New York, NY 10038 (212) 619-2720 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 (301) 652-5553 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.