Diseases & Conditions


Polycystic Kidney Diseases

Synonyms of Polycystic Kidney Diseases
  • PKD
  • Polycystic Renal Diseases

Disorder Subdivisions

  • Adult Polycystic Kidney Disease
  • Autosomal Dominant Polycystic Kidney Disease
  • Autosomal Recessive Polycystic Kidney Disease
  • Infantile Autosomal Recessive Polycystic Kidney Disease
  • Juvenile Autosomal Recessive Polycystic Kidney Disease
  • Neonatal Autosomal Recessive Polycystic Kidney Disease
  • Perinatal Polycystic Kidney Diseases
  • PKD1
  • PKD2
  • PKD3
  • Potter Type III Polycystic Kidney Disease
  • Potter Type I Infantile Polycystic Kidney Diseases

General Discussion
Polycystic Kidney Diseases are inherited renal disorders characterized by the presence of multiple cysts in both kidneys (bilateral renal cysts). Normal kidney tissue is replaced by fluid-filled sacs or cysts of varying sizes that become larger as the disease progresses. Findings associated with Polycystic Kidney Diseases include abnormally high blood pressure (hypertension) and the progressive loss of kidney function, leading to end-stage renal failure. Symptoms may include abdominal distention, vomiting, and/or failure to thrive. Some infants with Autosomal Recessive Polycystic Kidney Disease (ARPKD) have unusual facial features. This occurs when there is a severe reduction in the amount of amniotic fluid surrounding the developing fetus (oligohydramnios), resulting in what is known as the Potter deformation sequence.

There are two major subdivisions of Polycystic Kidney Disease (PKD): Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD).

ARPKD was previously subdivided into perinatal, neonatal, infantile, and juvenile forms. The different forms of the disease were based on the age at onset, which frequently correlates with the rate of progression and severity of the symptoms. This classification is archaic and is no longer valid nor should it be used.

ADPKD typically affects adults although increasing numbers of children are identified because of the increased use of ultrasound. ADPKD typically progresses more slowly than ARPKD.

Organizations related to Polycystic Kidney Diseases
  • ARPKD/CHF Alliance
    PO Box 70
    Kirkwood PA 17536
    Phone #: 717-529-5555
    800 #: 800-708-8892
    e-mail: [email protected]
    Home page: http://www.arpkdchf.org
  • American Kidney Fund, Inc.
    6110 Executive Boulevard
    Rockville MD 20852
    Phone #: 301-881-3052
    800 #: 800-638-8299
    e-mail: [email protected]
    Home page: http://www.kidneyfund.org
  • American Urological Association Foundation
    1000 Corporate Blvd.
    Linthicum MD 21090
    Phone #: 410-689-3700
    800 #: 866-746-4282
    e-mail: [email protected]
    Home page: http://www.auafoundation.org
  • Birth Defect Research for Children
    930 Woodcock Rd
    Orlando FL 32803
    Phone #: 407-895-0802
    800 #: --
    e-mail: [email protected]
    Home page: http://www.birthdefects.org
  • Guay-Woodford, Lisa M., M.D.
    Division of Nephrology
    Birmingham AL 35294-0007
    Phone #: 205-934-7308
    800 #: --
    e-mail: N/A
    Home page: N/A
  • International Patient Advocacy Association
    800 Bellevue Way
    Bellevue WA 98004
    Phone #: 426-646-3768
    800 #: --
    e-mail: N/A
    Home page: N/A
  • Kidney & Urology Foundation of America, Inc.
    152 Madison Ave.
    New York NY 10016
    Phone #: 212-629-9770
    800 #: 800-633-6628
    e-mail: [email protected]
    Home page: http://www.kidneyurology.org
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: [email protected]
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.madisonsfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: [email protected]
    Home page: http://www.marchofdimes.com
  • NIH/National Kidney and Urologic Diseases Information Clearinghouse
    3 Information Way
    Bethesda MD 20892-3580
    Phone #: N/A
    800 #: 800-891-5390
    e-mail: [email protected]
    Home page: http://kidney.niddk.nih.gov/
  • National Hypertension Association, Inc.
    324 East 30th Street
    New York NY 10016
    Phone #: 212-889-3557
    800 #: 800-575-9355
    e-mail: [email protected]
    Home page: http://www.nathypertension.org
  • National Kidney Foundation
    30 East 33rd Street
    New York NY 10016
    Phone #: 212-889-2210
    800 #: 800-622-9010
    e-mail: [email protected]
    Home page: http://www.kidney.org
  • PKD Foundation
    9221 Ward Parkway
    Kansas City MO 64114-3367
    Phone #: 816-931-2600
    800 #: 800-753-2873
    e-mail: [email protected]
    Home page: http://www.pkdcure.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html