Mayo Clinic is a leader in polycystic kidney disease research. Mayo Clinic researchers discovered:

  • The main gene that causes autosomal dominant polycystic kidney disease (ADPKD)
  • The gene that causes autosomal recessive polycystic kidney disease (ARPKD)
  • A gene that causes a rare form of polycystic kidney disease associated with multiple malformations (Meckel-Gruber syndrome)
  • The polycystic kidney disease proteins polycystin 1, polycystin 2 and fibrocystin
  • The polycystic kidney and liver disease gene GANAB
  • A way to use CT and MRI scans to classify polycystic kidney disease and select people for clinical trials of new therapies

Lab-based research at Mayo Clinic has focused on:

  • Explaining how mutations in the polycystic kidney disease genes lead to cyst development
  • Preclinical studies in drug therapies for polycystic kidney disease, such as octreotide and vasopressin antagonists
  • Finding effective therapies for polycystic kidney disease and liver disease
  • Improving imaging assessments of polycystic kidney and liver disease
  • Studies of polycystic kidney disease proteins in urine particles known as exosomes
  • Testing new compounds in animal models of polycystic kidney disease
  • Studies of the hairlike structures (primary cilia) implicated in polycystic kidney disease

Mayo research has shown that a new drug (tolvaptan) can dramatically slow the development and progression of polycystic kidney disease in animal models.

Mayo researchers have also shown that another drug (octreotide) delays the development of both polycystic kidney disease and polycystic liver disease and is a potential treatment option for people with liver involvement.

These medications are now in clinical trials and tolvaptan is approved for use in some countries for polycystic kidney disease. In addition, nephrologists at Mayo Clinic are working to understand how to prevent the progression of kidney (renal) disease in patients with polycystic kidney disease.

Read more about the extensive polycystic kidney disease research taking place at Mayo Clinic.

The Mayo Nephrology Collaborative Group — a consortium of nephrologists located across the United States — develops and conducts studies aimed at improving treatment of patients with renal diseases, including polycystic kidney disease.


See a list of publications by Mayo doctors on polycystic kidney disease on PubMed, a service of the National Library of Medicine.

July 13, 2017
  1. Polycystic kidney disease. National Kidney and Urologic Diseases Information Clearinghouse. Accessed March 11, 2017.
  2. Chapman AB, et al. Course and treatment of autosomal dominant polycystic kidney disease. Accessed March 11, 2017.
  3. Polycystic kidney disease. American Kidney Fund. Accessed March 11, 2017.
  4. Bennett WM, et al. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Accessed March 11, 2017.
  5. Polycystic kidney disease. National Kidney Foundation. Accessed March 11, 2017.
  6. Torres VE, et al. Diagnosis and screening for autosomal dominant polycystic kidney disease. Accessed March 11, 2017.
  7. Albert CM, et al. Autosomal dominant polycystic kidney disease: The changing face of clinical management. The Lancet. 2015;385:1993.
  8. 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.
  9. 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.
  10. Shoaf SE, et al. Pharmacokinetics and pharmacodynamics of Tolvaptan in autosomal dominat polycystic kidney disease: Phase 2 trials for dose selection in the pivotal phase 3 trial. The Journal of Clinical Pharmacology. In press. Accessed March 11, 2017.
  11. Hogan MC, et al. Somatostatin analog therapy for severe polycystic liver disease: Results after 2 years. Nephrology Dialysis Transplantation. 2012;27:3532.
  12. Riggin EA. Allscripts EPSi. Mayo Clinic, Rochester, Minn. Jan. 24, 2017.