Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder identified by an abundant growth of cysts in the kidneys.* ADPKD is the most commonly inherited kidney disease and affects 1 in every 400 to 1,000 people. The exact number of the people with ADPKD is uncertain, but it’s estimated that there are 200,000 to 600,000 people with the condition in the U.S. and 6,000 new cases diagnosed each year. An additional estimated 12 million people have the disease globally.

What are the symptoms of ADPKD?

Onset of ADPKD usually occurs in one’s 30s or 40s, and severity of symptoms can vary from person to person. The most common symptoms of ADPKD are:

• multiple fluid-filled cysts of various sizes in the kidneys;
• back and side pain; and
• Headaches.

Symptoms get progressively worse over time. The overgrowth of cysts damages and weakens the kidneys, eventually resulting in renal failure. People with ADPKD may also experience the following comorbidities and/or complications:

• hypertension (high blood pressure);
• hematuria (blood in the urine);
• urinary tract infections (UTIs);
• liver and pancreatic cysts;
• heart valve abnormalities;
• kidney stones; and/or
• brain aneurysms.

While some people with ADPKD experience few symptoms and receive a diagnosis by chance, this is a rare occurrence.

How is ADPKD diagnosed?

An ADPKD diagnosis is based on a combination of symptoms, clinical examination findings, family history, and kidney imaging. The most common test done is an ultrasound, but computed tomography (CT) scans and magnetic resonance imaging (MRI) are also used. Genetic testing can also confirm a diagnosis. If the abnormal gene is detected, unaffected family members may be tested to help predict if they are likely to develop the disease. Patients with questions about genetic testing should contact their healthcare provider.

What causes ADPKD?

Autosomal dominant polycystic kidney disease is caused by inherited mutations to any of these four genes: PK1, PK2, GANAB, and DNAJB11. PK1 mutations are responsible for about 85% of ADPKD cases. “Autosomal dominant” means that only one parent needs to have the genetic mutation in order to pass it on to a child. If one parent has the abnormal gene and the other parent has the normal gene, the abnormal gene will be dominant.

How is ADPKD treated?

Your treatment team may involve a radiologist, a nephrologist, a dietician, and a genetics specialist, in addition to your primary healthcare provider. The focus of treatment is to slow the disease progression and delay kidney failure by addressing symptoms and risk factors—whether directly related or peripheral to the kidneys. 

Depending on what stage of the disease you are in, treatment may include:

• management of high blood pressure with diet, exercise, and medications;
• renal replacement therapy (RRT), such as dialysis and/or kidney transplant; and/or
• medications to slow kidney function decline.

JYNARQUE® (tolvaptan) is the only medication for kidney function decline that is currently approved by the U.S. Food and Drug Administration (FDA). It is given solely to adults with ADPKD who are at high risk for rapid disease progression.

Further information can be found on the National Organization for Rare Disorders’ page on Autosomal Dominant Polycystic Kidney Disease.

*Genetic and Rare Disease Information Center, National Institutes of Health. (2020, Feb. 21). Autosomal Dominant Polycystic Kidney Disease.