Polycystic Kidney Diseases

National Organization for Rare Disorders, Inc.

It is possible that the main title of the report Polycystic Kidney Diseases 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.


  • PKD
  • Polycystic Renal Diseases

Disorder Subdivisions

  • Autosomal Recessive Polycystic Kidney Disease
  • PKD3
  • Neonatal Autosomal Recessive Polycystic Kidney Disease
  • Perinatal Polycystic Kidney Diseases
  • Infantile Autosomal Recessive Polycystic Kidney Disease
  • Juvenile Autosomal Recessive Polycystic Kidney Disease
  • Autosomal Dominant Polycystic Kidney Disease
  • PKD1
  • Adult Polycystic Kidney Disease
  • Potter Type III Polycystic Kidney Disease
  • PKD2
  • 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 This classification is archaic and is no longer valid nor should it be used.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.


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.
6110 Executive Boulevard
Suite 1010
Rockville, MD 20852
Tel: (301)881-3052
Fax: (301)881-0898
Tel: (800)638-8299
Email: helpline@kideyfund.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
9221 Ward Parkway
Suite 400
Kansas City, MO 64114-3367
Tel: (816)931-2600
Fax: (816)931-8655
Tel: (800)753-2873
Email: pkdcure@pkdcure.org
Internet: http://www.pkdcure.org

American Urological Association Foundation
1000 Corporate Blvd.
Linthicum, MD 21090
Tel: (410)689-3700
Fax: (410)689-3800
Tel: (866)746-4282
Email: auafoundation@auafoundation.org
Internet: http://www.auafoundation.org

Guay-Woodford, Lisa M., M.D.
Division of Nephrology
University of Alabama Medical Center
ZRB 624, 1530 Third Ave S.
Birmingham, AL 35294-0007
Tel: (205)934-7308
Fax: (205)975-5689

NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Tel: (800)891-5390
Email: nkudic@info.niddk.nih.gov
Internet: http://kidney.niddk.nih.gov/

International Patient Advocacy Association
800 Bellevue Way
MGM Building, Suite 400
Bellevue, WA 98004
Tel: (426)646-3768

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
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.
800 Celebration Ave, Suite 225
Orlando, FL 34747
Tel: (407)566-8304
Fax: (407)895-0824
Email: staff@birthdefects.org
Internet: http://www.birthdefects.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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.
152 Madison Ave.
Suite 201
New York, NY 10016
Tel: (212)629-9770
Fax: (212)629-5652
Tel: (800)633-6628
Email: info@kidneyurology.org
Internet: http://www.kidneyurology.org

For a Complete Report

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

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