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.

Laboratory-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.

Read about Mayo Clinic's Translational Polycystic Kidney Disease (PKD) Center, which focuses on translating research findings into new and better treatments for PKD.

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. In addition, nephrologists at Mayo Clinic are working to understand how to prevent the progression of renal disease in patients with polycystic kidney disease.

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.

Publications

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

Nov. 18, 2011