A comprehensive review published by Mayo Clinic researchers advances the understanding of Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most common inherited form of kidney disease and the fourth leading cause of kidney failure worldwide.

Published in the Journal of the American Medical Association (JAMA), the review advances the understanding of ADPKD, which accounts for 5-10% of kidney failure in the U.S. and Europe. Its prevalence in the U.S. is 9.3 cases per 10,000 people.

"This is a vital resource for healthcare providers to stay informed about the latest diagnostic tools and treatment strategies to enhance patient care," says Fouad Chebib, M.D., a Mayo Clinic nephrologist and first author of the review. "It covers how the disease disrupts the normal functioning of the body, signs and symptoms of the disease, diagnosis, treatment and the likely outcome, equipping healthcare providers to manage this complex condition, improving the quality of life through timely, evidence-based care."

Physicians typically diagnose ADPKD in patients who are between the ages of 27 and 42. The disease causes fluid-filled cysts to grow on the kidneys, leading to kidney failure. Over 90% of people over age 35 diagnosed with ADPKD also present with multiple liver cysts, which can cause discomfort or pain.

ADPKD symptoms can vary from person to person. Some people may not have any symptoms, while others may experience high blood pressure, pain in the back or side, blood in the urine, frequent urinary tract infections and kidney stones. 

Hypertension affects 70-80% of people with ADPKD, and 9-14% of them develop brain aneurysms (a weakened and bulging area in the wall of a blood vessel), which have a low rupture rate.

A change in one of two genes, PKD1 (78%) or PKD2 (15%), causes most cases of ADPKD. If a person has one of these changes, they have a 50% chance of passing the condition on to their children. However, 10-25% of people have a genetic alteration not inherited from either parent.

The review provides practical guidance on managing blood pressure, sodium intake, hydration and lifestyle changes to delay complications such as kidney failure, liver cysts and hypertension to slow disease progression.

A key tool in managing the disease is the Mayo Imaging Classification (MIC), which predicts the severity of the disease based on a person's kidney size and growth rate. Higher MIC classifications indicate faster growth and an earlier need for kidney replacement (dialysis or kidney transplantation). Roughly half of ADPKD patients need kidney replacement therapy by age 62.

The review also explores the use of novel therapies, such as the drug tolvaptan, recently approved by the Food and Drug Administration to slow kidney function decline for high-risk adults at risk of rapidly progressing ADPKD.

"This drug improves care and paves the way for future therapies that enhance the quality of life and delay kidney failure," explains Neera Dahl, M.D., Ph.D., Mayo Clinic nephrologist and senior author of the review.

The review recommends that a kidney specialist who manages patients with ADPKD should share decision-making with the patient regarding genetic testing, treatments, monitoring and aneurysm screening. This collaborative approach recognizes the importance of the physician's medical expertise and the patient's values, preferences, and goals. It also says patients with ADPKD should be aware of the symptoms of ruptured aneurysms (sudden, severe headache) and the need for immediate medical attention should they experience those symptoms.

Review the study for a complete list of authors, disclosures and funding.

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