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    Polycystic Kidney Disease, Autosomal Recessive

    Important
    It is possible that the main title of the report Polycystic Kidney Disease, Autosomal Recessive 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

    • ARPKD
    • polycystic kidney disease, infantile

    Disorder Subdivisions

    • None

    General Discussion

    Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the formation of fluid-filled sacs (cysts) in the kidneys. Most affected infants have enlarged kidneys during the newborn (neonatal) period and some cases may be fatal at this time. ARPKD is not simply a kidney disease and additional organ systems of the body may also be affected, especially the liver. High blood pressure (hypertension), excessive thirst, frequent urination and feeding difficulties may also occur. Some affected children may also have distinctive facial features and incomplete development of the lungs (pulmonary hypoplasia) causing breathing (respiratory) difficulties. The severity of the disorder and the specific symptoms that occur can vary greatly from one person to another. Some affected children eventually develop end-stage renal disease sometime during the first decade of life. In some cases, symptoms do not develop until adolescence or even adulthood. ARPKD is caused by mutations of the PKHD1 gene.

    Resources

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    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

    PKD Foundation
    8330 Ward Parkway
    Suite 510
    Kansas City, MO 64114-2000
    USA
    Tel: (816)931-2600
    Fax: (816)931-8655
    Tel: (800)753-2873
    Email: pkdcure@pkdcure.org
    Internet: http://www.pkdcure.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/

    Children's Liver Disease Foundation
    36 Great Charles Street
    Birmingham, B3 3JY
    United Kingdom
    Tel: 01212123839
    Fax: 01212124300
    Email: info@childliverdisease.org
    Internet: http://www.childliverdisease.org

    National Hypertension Association, Inc.
    324 East 30th Street
    New York, NY 10016
    Tel: (212)889-3557
    Fax: (212)447-7032
    Tel: (800)575-9355
    Email: nathypertension@aol.com
    Internet: http://www.nathypertension.org

    ARPKD/CHF Alliance
    PO Box 70
    Kirkwood, PA 17536
    USA
    Tel: (717)529-5555
    Fax: (800)807-9110
    Tel: (800)708-8892
    Email: info@arpkdchf.org
    Internet: http://www.arpkdchf.org

    Birth Defect Research for Children, Inc.
    976 Lake Baldwin Lane
    Orlando, FL 32814
    USA
    Tel: (407)895-0802
    Email: staff@birthdefects.org
    Internet: http://www.birthdefects.org

    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/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.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

    Medical Home Portal
    Dept. of Pediatrics
    University of Utah
    P.O. Box 581289
    Salt Lake City, UT 84158
    Tel: (801)587-9978
    Fax: (801)581-3899
    Email: mindy.tueller@utah.edu
    Internet: http://www.medicalhomeportal.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: 4/13/2011
    Copyright 1986, 1987, 1990, 1991, 1992, 1994, 1995, 1996, 1999, 2002, 2003, 2011 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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