Diagnosis at Mayo ClinicBy Mayo Clinic Staff
In many cases, your doctor can identify polycystic kidney disease based on imaging tests of your kidneys and other organs to make the diagnosis. However, genetic tests can also be used when imaging test results are inconclusive.
For genetic testing, special blood tests are given to you and to family members who are known to have or not have the condition. Results of your blood test are compared to those of your family members.
Genetic testing is often used when one family member considers donating a kidney to another family member for a living-donor kidney transplant.
June 14, 2014
- Polycystic kidney disease. National Kidney and Urologic Diseases Information Clearinghouse. http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed March 29, 2014.
- Ferri FF. Ferri's Clinical Advisor 2014: 5 Books in 1. Philadelphia, Pa.: Mosby Elsevier; 2014. https://www.clinicalkey.com. Accessed March 29, 2014.
- Alpern RJ, et al. Seldin and Giebisch's The Kidney. 5th ed. Philadelphia, Pa.: Elsevier; 2013. http://www.clinicalkey.com. Accessed March 29, 2014.
- Polycystic kidney disease. Kidney Foundation. http://www.kidney.org/atoz/content/polycystic.cfm . Accessed March 29, 2014.
- Taal MW, et al. Brenner & Rector's The Kidney. 9th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.clinicalkey.com. Accessed March 29, 2014.
- Riggin EA. Decision Support System. Mayo Clinic, Rochester, Minn. Feb. 26, 2014.
- Devuyst O, et al. Osmoregulation, vasopressin, and cAMP signaling in autosomal dominant polycystic kidney disease. Current Opinion in Nephrology and Hypertension. 2013;22:459.
- Rossetti S, et al. Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. Journal of the American Society of Nephrology. 2012;23:915.
- Torres VE, et al. Strategies targeting cAMP signaling in the treatment of polycystic kidney disease. Journal of the American Society of Nephrology. 2014; 25:18.
- Torres VE, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. New England Journal of Medicine. 2012;367:2407.
- Hogan MC, et al. Somatostatin analog therapy for severe polycystic liver disease: Results after 2 years. Nephrology Dialysis Transplantation. 2012;27:3532.
- Castle EP (expert opinion). Mayo Clinic, Phoenix /Scottsdale, Ariz. April 6, 2014.
- Heilman RL (expert opinion). Mayo Clinic, Phoenix/Scottsdale, Ariz. April 7, 2014.