The polycystic kidney diseases are among the most common life-threatening inherited diseases worldwide and frequently cause kidney failure. Autosomal dominant polycystic kidney disease (ADPKD) is seen predominantly in adults (Fig. 284-1), whereas autosomal recessive polycystic kidney disease (ARPKD) is mainly a disease of childhood. Renal cysts also are seen in several other hereditary kidney diseases (Table 284-1), some of which may have defects in a common signaling pathway with ADPKD and ARPKD. Other inherited tubular diseases manifest primarily with alterations in fluid, electrolyte, acid-base, and mineral balance (Table 284-2).

Table Graphic Jump Location
Table 284-1 Inherited Cystic Kidney Diseases 
Figure 284-1
Graphic Jump LocationGraphic Jump LocationGraphic Jump Location

Renal ultrasonogram and contrast-enhanced abdominal CT scan in a 56-year-old woman with autosomal dominant polycystic kidney disease. A. Sonogram of the right kidney showing numerous cysts of varying sizes (arrows). B. Abdominal CT scan demonstrating bilaterally enlarged kidneys with large cysts (arrows). C. Multiple liver cysts (arrowheads) and renal cysts (arrow) are seen in an upper abdominal image.


Autosomal Dominant Polycystic Kidney Disease


Etiology and Pathogenesis


Want access to your institution's subscription?

Sign in to your MyAccess Account while you are actively authenticated on this website via your institution (you will be able to tell by looking in the top right corner of any page – if you see your institution’s name, you are authenticated). You will then be able to access your institute’s content/subscription for 90 days from any location, after which you must repeat this process for continued access.


About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess account, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessMedicine Full Site: One-Year Subscription

Connect to the full suite of AccessMedicine content and resources including more than 250 examination and procedural videos, patient safety modules, an extensive drug database, Q&A, Case Files, and more.

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessMedicine

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.