Autosomal Dominant Polycystic Kidney Disease
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Autosomal Dominant Polycystic Kidney Disease is not the name you expected.
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 most patients, 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. Approximately 85 % have ADPKD1, the most aggressive form of the disease; those with ADPKD2 progress to kidney insufficiency about 20 years later.
American Association of Kidney Patients
- 2701 North Rocky Point Drive, Suite 150
- Tampa, FL 33607
- Tel: (813)636-8100
- Fax: (813)636-8122
- Tel: (800)749-2257
- Email: firstname.lastname@example.org
- Website: http://www.aakp.org
American Kidney Fund, Inc.
- 11921 Rockville Pike
- Suite 300
- Rockville, MD 20852
- Tel: (800)638-8299
- Email: email@example.com
- Website: http://www.kidneyfund.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
- Website: http://rarediseases.info.nih.gov/GARD/
NIH/National Kidney and Urologic Diseases Information Clearinghouse
- 3 Information Way
- Bethesda, MD 20892-3580
- Fax: (703)738-4929
- Tel: (800)891-5390
- Email: firstname.lastname@example.org
- Website: http://www.kidney.niddk.nih.gov/
National Kidney Foundation
- 30 East 33rd Street
- New York, NY 10016
- Tel: (212)889-2210
- Fax: (212)689-9261
- Tel: (800)622-9010
- Email: email@example.com
- Website: http://www.kidney.org
- 8330 Ward Parkway
- Suite 510
- Kansas City, MO 64114-2000
- Tel: (816)931-2600
- Fax: (816)931-8655
- Tel: (800)753-2873
- Email: firstname.lastname@example.org
- Website: http://www.pkdcure.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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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.
Last Updated: 4/29/2015
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