Polycystic kidney disease

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Research

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.
  • Other genes that cause kidney cyst disease, such as DNAJB11.
  • A way to use CT and MRI scans to classify polycystic kidney disease and select people for clinical trials of new therapies.
  • A pioneering approach to surgery to remove diseased kidneys and transplant healthy kidneys during the same surgery.

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 disease 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 Clinic research has shown that a medicine called tolvaptan can slow the development and progression of polycystic kidney disease in animal models.

Mayo Clinic researchers also have shown that another medicine called octreotide delays the development of both polycystic kidney disease and polycystic liver disease and is a potential treatment option for people who have PKD with liver involvement.

These medicines 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 research being done at Mayo Clinic's Robert M. and Billie Kelley Pirnie Translational Polycystic Kidney Disease (PKD) Center.

The Mayo Nephrology Collaborative Group ― a consortium of nephrologists 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 about polycystic kidney disease by Mayo Clinic doctors on PubMed, a service of the National Library of Medicine.

Research Profiles

By Mayo Clinic Staff

Polycystic kidney disease care at Mayo Clinic

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Diagnosis & treatmentCare at Mayo Clinic
Aug. 27, 2024
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Polycystic kidney disease

Research: It's all about patients

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Joseph Sirven, M.D., Professor of Neurology, Mayo Clinic: Mayo's mission is about the patient. The patient comes first. So the mission and research here is to advance how we can best help the patient, how to make sure the patient comes first in care. So in many ways, it's a cycle. It can start with as simple as an idea worked on in a laboratory, brought to the patient bedside, and if everything goes right — and let's say it's helpful or beneficial — then brought on as a standard approach. And I think that is one of the unique characteristics of Mayo's approach to research — that patient-centeredness — that really helps to put it in its own spotlight.