Polycystic Kidney Diseases

Synonyms

• PKD
• Polycystic Renal Diseases

Disorder Subdivisions

• Autosomal Recessive Polycystic Kidney Disease
• ARPKD
• 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
• ADPKD
• 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 This classification is archaic and is no longer valid nor should it be used.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.
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Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
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
USA
Tel: 3018813052
Fax: 3018810898
Tel: 8006388299
Email: helpline@kindeyfund.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
USA
Tel: 8169312600
Fax: 8169318655
Tel: 8007532873
Email: pkdcure@pkdcure.org
Internet: http://www.pkdcure.org

American Urological Association Foundation
1000 Corporate Blvd.
Linthicum, MD 21090
USA
Tel: 4106893700
Fax: 4106893800
Tel: 8667464282
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
USA
Tel: 7175295555
Fax: 7175295500
Email: info@arpkd.org
Internet: http://www.arpkd.org

Birth Defect Research for Children, Inc.
930 Woodcock Rd
Suite 225
Orlando, FL 32803
USA
Tel: 4078950802
Fax: 4078950824
Email: staff@birthdefects.org
Internet: http://www.birthdefects.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

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: 5/1/2006
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