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
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 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.
Jun. 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.
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