Polycystic Kidney Disease, Autosomal Dominant

National Organization for Rare Disorders, Inc.

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

  • ADPKD

Disorder Subdivisions

  • None

General Discussion

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the formation of cysts within the kidneys. Symptoms caused by cyst formation in the kidneys include high blood pressure (hypertension), pain on the sides of the body between the last rib and the hip (flank pain), blood in the urine (hematuria) and progressively poor function of the kidneys (kidney insufficiency). In approximately 50 percent of cases, ADPKD eventually progresses to cause end stage renal disease, requiring renal replacement therapy, either dialysis or renal transplantation. ADPKD is not simply a kidney disorder and other organ systems of the body can potentially be affected (multisystem disorder) by the development of cysts. The specific symptoms present in each person depend upon the specific organ systems involved. The liver, pancreas, a membrane covering the spinal cord and brain (arachnoid membrane), the prostate, and the glands of the male reproductive tract that produce fluid that is part of semen (seminal vesicles) may become involved. Abnormalities affecting the heart and blood vessels (cardiovascular system) may also occur in individuals with ADPKD. ADPKD usually does not become apparent until the fourth or fifth decade and was once known as "adult" polycystic kidney disease. However, it has been reported in children and infants. ADPKD is caused by mutations of one of two genes that create certain proteins essential for the proper health of the kidneys and other parts of the body.

Resources

American Association of Kidney Patients
3505 E. Frontage Road, Suite 315
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.
6110 Executive Boulevard
Suite 1010
Rockville, MD 20852
USA
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
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
Tel: (800)891-5390
Email: nkudic@info.niddk.nih.gov
Internet: http://kidney.niddk.nih.gov/

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

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

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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