$Unique_ID{BRK03805} $Pretitle{} $Title{Hematuria, Benign, Familial} $Subject{Hematuria, Benign, Familial Hematuria, Essential Hematuria, Benign, Recurrent Alport Syndrome Chronic Renal Failure} $Volume{} $Log{} Copyright (C) 1989 National Organization for Rare Disorders, Inc. 699: Hematuria, Benign, Familial ** IMPORTANT ** It is possible that the main title of the article (Hematuria, Benign, Familial) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hematuria, Essential Hematuria, Benign, Recurrent Information on the following diseases can be found in the Related Disorders section of this report: Alport Syndrome Chronic Renal Failure 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. Benign Familial Hematuria is a hereditary nonprogressive kidney disease that begins in childhood and is characterized by blood in the urine. Symptoms Benign Familial Hematuria is a nonprogressive kidney disorder that usually begins in childhood and is characterized by occasional or multiple episodes of red blood cells in the urine, and scattered thinning of the microscopic parts of the kidney (glomerular basement membranes). The amount of blood in the urine may be microscopic or visible, and is often preceded by a respiratory infection. Unlike other kidney disorders, there is little or no blood plasma protein in the urine (proteinuria), and there is no change in the renal (kidney) function. In children with this disorder there may be a clearing of the urine after each episode; in adults the blood in the urine may be more persistent. Causes Although the exact cause of Benign Familial Hematuria is unknown, it is often preceded by an acute respiratory infection. There may be a genetic pre- disposition transmitted through autosomal dominant genes. 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 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. A genetic predisposition means that a person may have a gene but may not get the disease unless something in the environment triggers the gene to malfunction. "Familial" means this disease tends to run in families. Affected Population Benign Familial Hematuria occurs more frequently in males than females, and more often in children and young adults. Related Disorders Symptoms of the following kidney disorders can be similar to those of Benign Familial Hematuria. Comparisons may be useful for a differential diagnosis: Alport Syndrome is a group of hereditary kidney disorders. They are characterized by progressive deterioration of the glomerular basement membranes (GBM's) which are microscopic parts of the kidney. This deterioration may lead to chronic renal failure causing excess waste products in the blood (uremia). Eventually severe renal failure may cause heart and bone problems. Some types of Alport Syndrome also affect vision and hearing. (For more information on this disorder, choose "Alport" as your search term in the Rare Disease Database). Chronic Renal Failure can be a complication of many kidney diseases or a symptom of a variety of diseases and conditions. It occurs gradually when the kidneys can no longer filter waste products from the blood. Increased urination (polyuria), red blood cells and blood plasma proteins in the urine (hematuria, proteinuria), high blood pressure and anemia may occur. Therapies: Standard Since Benign Familial Hematuria is not a progressive disorder, treatment may not be necessary. Genetic counseling may be of benefit for patients and families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1989. 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 Benign Familial Hematuria, 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 Kidney and Urological Diseases Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 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 THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 299. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 877. ESTABLISHING THE DIAGNOSIS OF BENIGN FAMILIAL HEMATURIA. THE IMPORTANCE OF EXAMINING THE URINE SEDIMENT OF FAMILY MEMBERS. S. Blumenthal et al.; JAMA, (April 15, 1988; issue 259 (15)). Pp. 2263-2266. BENIGN FAMILIAL HEMATURIA. N. Yoshikawa et al.; ARCH PATHOL LAB MED, (August 1988; issue 112 (8)). Pp. 794-797.