A Team Approach to ADPKD Care

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition where cysts filled with fluid develop on the kidneys. The cysts can grow larger over time and impact kidney function, leading to kidney failure.

While ADPKD can affect other organs and systems, patients are primarily cared for by nephrologists since the kidneys are always impacted.

“Given that multiple organs and systems outside the kidneys are involved in ADPKD, a multidisciplinary approach is essential,” says Maryam Gondal, MD, MBBS, assistant professor of medicine (nephrology) and medical director of Yale Medicine Polycystic Kidney Disease Program, a designated Polycystic Kidney Disease (PKD) Foundation Center of Excellence.

Gondal became co-director of the center in 2025, joining Stefan Somlo, MD, C. N. H. Long Professor of Medicine (Nephrology) and professor of genetics, and Whitney Besse, MD, assistant professor of medicine (nephrology), who serve as the center's genetics and research co-directors.

Yale offers individuals with ADPKD access to all subspecialty care needed in their health journey. The goal of the center is to integrate care for individuals with ADPKD and provide access to all the services and subspecialties they need.

The center collaborates with various specialists, including interventional radiologists, surgeons, geneticists, and hepatologists, to help manage the illness. The clinicians also provide referrals for diet management and for those looking to start a family.

As a dominantly inherited disease, ADPKD has a 50% chance of being passed down genetically to children if one parent has the mutated gene. Genetic testing can help evaluate or confirm mutation type and guide treatment based on the severity and disease progression, as well as help counsel family members on their risk for the disease.

“Genetic testing is increasingly part of clinical care, and a valuable adjunct to everything else we do as nephrologists,” Somlo says. “We're able to help solve challenging cases by applying even more in-depth genome sequencing analyses.”

The genetic testing at the ADPKD center is conducted by a third party, and results can be challenging to interpret as there can be false negatives, variants of uncertain significance (VUS), or rare genes involved. Besse has expertise in interpreting ADPKD genetics. She works with other clinicians, such as Gondal, to discuss the findings and consider the next steps.

“In the cases where the testing result comes back negative, the primary clinician and I talk through whether we suspect something was missed, and what other type of testing we should consider, " adds Besse.

Besse finds that additional assessments of genotype-phenotype connections can often inform VUS. In some cases, her lab has been able to perform additional individualized genetic evaluation to confirm the effect of a patient’s genetic variant. This added level of expertise and options beyond the initial third-party test can be very helpful to provide patients with a well-informed diagnosis.

Currently, tolvaptan is the only U.S. Food and Drug Administration (FDA) approved medication to treat ADPKD. It works by slowing down the progression of kidney failure, but it is not a cure for the disease.

Gondal says it’s considered a high-risk drug due to its side effects and the need for frequent lab work to monitor liver function.

As the principal investigator (PI) of numerous industry-sponsored clinical trials at Yale, Gondal is evaluating potential new drugs for ADPKD. Her role as the PI is to counsel patients about the trials, including evaluating and screening for eligibility, and managing any issues patients encounter during enrollment.

The growth in the number and diversity of clinical trials available to patients with ADPKD is encouraging, says Gondal. “These new trials mean we are making strides to provide more treatment options for our patients.”

Somlo adds that the clinical trials are what bring many ADPKD patients to Yale. “ADPKD is a complicated disease, and our patients want to participate in research and have access to cutting-edge treatments,” he says.

Until other options for medications become available, Gondal and team continue to follow the Kidney Disease Improving Global Outcomes (KDIGO) clinical practice guidelines for the evaluation, management, and treatment of ADPKD. KDIGO’s guidelines, which were published in January 2025, provide recommendations for diet and hydration, medications, and best practices to prevent the kidney disease from worsening.

“Right now, our focus is to keep our patients as healthy as possible by helping prevent disease progression,” Gondal notes.

“While it’s very challenging for people who have familial diseases like ADPKD, we’re able to help them navigate their disease,” remarks Somlo. “We’re hopeful that new therapies are on the horizon, and someday drugs will be created to target the root causes resulting from genetic mutation.”