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Causes
By Mayo Clinic staff
Cysts are noncancerous (benign), round sacs that contain water-like fluid. They vary in size and as they accumulate more fluid can grow extremely large. A kidney containing numerous cysts can weigh as much as 30 pounds.
Abnormal genes cause polycystic kidney disease, and the genetic defects mean the disease runs in families. There are two types of polycystic kidney disease, caused by different genetic flaws:
- Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but children can develop the disorder. Only one parent needs to have the disease in order for it to pass along to the children. If one parent has ADPKD, each child has a 50 percent chance of getting the disease. This form accounts for about 90 percent of cases of polycystic kidney disease.
- Autosomal recessive polycystic kidney disease (ARPKD). This type is far less common than ADPKD. The signs and symptoms often appear shortly after birth. Sometimes, symptoms don't appear until later in childhood or during adolescence. Both parents must have abnormal genes to pass on this form of the disease. If both parents carry the genes for this disorder, each child has a 25 percent chance of getting the disease.
Researchers have identified two genes associated with ADPKD and one associated with ARPKD so far.
In some cases, a person with ADPKD has no known family history of the disease. But it's possible that someone in the affected person's family actually did have the disease, but didn't show signs or symptoms before dying of other causes. In a smaller percentage of cases where no family history is present, ADPKD results from a spontaneous gene mutation.
- Polycystic kidney disease. National Institute of Diabetes and Digestive and Kidney Diseases. http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed May 19, 2009.
- Polycystic kidney disease. Kidney Foundation. http://www.kidney.org/atoz/pdf/polycystic.pdf. Accessed May 19, 2009.
- Salant DJ, et al. Polycystic kidney disease and other inherited tubular disorders, In: Fauci AS, et al. Harrison's Principles of Internal Medicine. 17th ed. New York, N.Y.: McGraw-Hill Medical; 2008. http://www.accessmedicine.com/content.aspx?aID=2874530. Accessed May 22, 2009.
- Polycystic kidney disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=polycystickidneydisease. Accessed May 19, 2009.
- Grantham JJ. Autosomal dominant polycystic kidney disease. New England Journal of Medicine. 2008;359:1477.
- How is high blood pressure treated? National Heart, Lung and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/Hbp/HBP_Treatments.html. Accessed May 22, 2009.
