Autosomal Dominant Polycystic Kidney Disease
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering full Rare Disease reports to visitors who register on our website, for free. If you have already registered or if you are a subscriber, clicking the link to view the full report will give you an opportunity to log in. You will also be able to register or to reset your password. Registration is free and we do not share your information with anyone else, but you are limited to two full reports a day.
NORD is very grateful to Jared Grantham, MD, Harry Statland Professor of Nephrology, University Distinguished Professor, Associate Dean for Medical Graduate Studies, Kidney Institute, University of Kansas Medical Center, for assistance in the preparation of this report.
Synonyms of Autosomal Dominant Polycystic Kidney Disease
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 60 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. Approximately 85 % have ADPKD1, the most aggressive form of the disease; those with ADPKD2 progress to kidney insufficiency about 20 years later.
Organizations related to Autosomal Dominant Polycystic Kidney Disease
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 2009, 2012
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.