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    Alport Syndrome

    Important
    It is possible that the main title of the report Alport Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • Hereditary Nephritis
    • Hematuria-Nephropathy Deafness
    • Hereditary Deafness and Nephropathy
    • Hereditary Nephritis With Sensory Deafness
    • Hemorrhagic familial nephritis

    Disorder Subdivisions

    • None

    General Discussion

    Summary
    Alport syndrome is a rare genetic disorder characterized by progressive kidney disease and abnormalities of the ears and eyes. There are three genetic types. X-linked Alport syndrome (XLAS) is the most common; in these families affected males typically have more severe disease than affected females. In autosomal recessive Alport syndrome (ARAS) the severity of disease in affected males and females is similar. There is also an autosomal dominant form (ADAS) which affects males and females with equal severity. The hallmark of the disease is the appearance of blood in the urine (hematuria) early in life, with progressive decline in kidney function (kidney insufficiency) that ultimately results in kidney failure, especially in affected males. About 50% of untreated males with XLAS develop kidney failure by age 25, increasing to 90% by age 40 and nearly 100% by age 60. Females with XLAS usually do not develop kidney insufficiency until later in life. They may not develop kidney insufficiency or failure at all, but the risk increases as they grow older. Both males and females with ARAS develop kidney failure, often in the teen-age years or early adulthood. ADAS tends to be a slowly progressive disorder in which renal insufficiency does not develop until well into adulthood. Individuals with Alport syndrome can also develop progressive hearing loss of varying severity and abnormalities of the eyes that usually do not result in impaired vision. XLAS is caused by mutations in the COL4A5 gene. ARAS is caused by mutations in both copies of either the COL4A3 or the COL4A4 gene. ADAS caused by mutations in one copy of the COL4A3 or COL4A4 gene. Alport syndrome is treated symptomatically and certain medications can potentially delay the progression of kidney disease and the onset of kidney failure. Ultimately, in many cases, a kidney transplant is required.

    Introduction
    The disease we now know as Alport syndrome was first described in the British medical literature in the early years of the 20th century. In 1927 Dr. Cecil Alport published a paper describing the association of kidney disease and deafness in affected individuals. Many additional cases were described in the literature and the disorder was named after Dr. Alport in 1961. Alport syndrome is often discussed with a related disorder known as thin basement membrane nephropathy (TBMN). Many cases of TBMN are caused by different mutations in the same genes that cause the autosomal recessive and dominant forms of Alport syndrome. TBMN is characterized by persistent microscopic blood in the urine (hematuria) in a similar pattern as seen in individuals with Alport syndrome. However, unlike Alport syndrome, TBMN is rarely associated with symptoms outside of the kidney (extrarenal abnormalities) and additional kidney findings such as protein in the urine (proteinuria), high blood pressure (hypertension), kidney insufficiency, and kidney failure rarely develop. It is extremely important to distinguish these disorders from one another because TBMN is much more common and a much milder disorder. The spectrum of disease that includes TBMN and Alport syndrome is sometimes referred to as collagen IV-related nephropathies. For more information on TBMN see the Related Disorders section of this report.

    Resources

    American Association of Kidney Patients
    2701 North Rocky Point Drive, Suite 150
    Tampa, FL 33607
    USA
    Tel: (813)636-8100
    Fax: (813)636-8122
    Tel: (800)749-2257
    Email: info@aakp.org
    Internet: http://www.aakp.org

    American Kidney Fund, Inc.
    11921 Rockville Pike
    Suite 300
    Rockville, MD 20852
    USA
    Tel: (800)638-8299
    Email: helpline@kidneyfund.org
    Internet: http://www.kidneyfund.org

    National Kidney Foundation
    30 East 33rd Street
    New York, NY 10016
    Tel: (212)889-2210
    Fax: (212)689-9261
    Tel: (800)622-9010
    Email: info@kidney.org
    Internet: http://www.kidney.org

    NIH/National Kidney and Urologic Diseases Information Clearinghouse
    3 Information Way
    Bethesda, MD 20892-3580
    Fax: (703)738-4929
    Tel: (800)891-5390
    TDD: (866)569-1162
    Email: nkudic@info.niddk.nih.gov
    Internet: http://www.kidney.niddk.nih.gov/

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Let Them Hear Foundation
    1900 University Avenue, Suite 101
    East Palo Alto, CA 94303
    Tel: (650)462-3174
    Fax: (650)462-3144
    Email: info@letthemhear.org
    Internet: http://www.letthemhear.org

    Kidney & Urology Foundation of America, Inc.
    2 West 47th Street
    Suite 401
    New York, NY 10036
    Tel: (212)629-9770
    Fax: (212)629-5652
    Tel: (800)633-6628
    Email: info@kidneyurology.org
    Internet: http://www.kidneyurology.org

    Alport Syndrome Foundation
    1608 E. Briarwood Terrace
    Phoenix, AZ 85048-9414
    Tel: (480)460-0621
    Fax: (480)460-0621
    Email: info@alportsyndrome.org
    Internet: http://www.alportsyndrome.org

    Hearing Loss Association of America
    7910 Woodmont Avenue
    Suite 1200
    Bethesda, MD 20814
    Tel: (301)657-2248
    Fax: (301)913-9413
    Email: info@hearingloss.org
    Internet: http://www.hearingloss.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. 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.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 3/20/2014
    Copyright 1988, 1989, 2004, 2007, 2014 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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