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22 May 2020

Polycystic Kidney Disease: Is it hiding in your genes?

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May 22, 2020 Category: Seniors Posted by:


Polycystic Kidney Disease (PKD), causes numerous cysts to grow in the kidneys and for those affected by this condition, nearly 50% will experience End Stage Renal Disease (ESRD) by age 60. According to the National Kidney Foundation, autosomal dominant polycystic kidney disease (ADPKD) accounts for as many as 90% of all polycystic kidney disease cases.

The most common inherited kidney disorder

ADPKD, the most common form of PKD, is a genetic kidney disease that leads to cyst formation and kidney growth. Additionally, ADPKD is the most common inherited renal disease/kidney disorder and according to recent data, affects as many as 140,000 Americans. And overall, ADPKD is the fourth leading cause of ERSD. ADPKD is a progressive condition and may eventually lead to kidney failure requiring some form of renal replacement therapy, either dialysis or kidney transplant.

While ADPKD is considered a rare disease and is relatively unknown to most people, it is unfortunately all too common in families impacted by the condition. In fact, children of parents with ADPKD have a 50% chance of inheriting the disease. This is a sobering statistic, however, a critical first step for people with a family history of chronic kidney disease or ADPKD is to discuss the condition with relatives and a doctor who specializes in kidney care as early as possible. However, not all cases of ADPKD are inherited, in approximately 5%?10% of patients with ADPKD, no family history can be documented, suggesting spontaneous mutations. 

How ADPKD is diagnosed

Typically, ADPKD is diagnosed by an ultrasound of the kidneys; however, a computerized tomography (CT) scan or magnetic resonance imaging (MRI) of the kidneys may also be conducted. In addition, genetic testing may also be used for people who have received an inconclusive imaging result, have no family history of the condition, who may be considering testing to determine if he or she can pass the gene on to their children, and for diagnosis of possible kidney donors.

Using the latest technologies, physicians now have the ability to identify ADPKD patients who are at risk for rapid progression of kidney function decline as well as estimate how quickly someone with ADPKD is likely to progress based on the size of his or her kidneys. Although disease progression can be highly variable, even among family members, it’s important to confirm diagnosis early on as patients with rapidly progressing ADPKD reach end stage renal disease at a younger age.


Management strategies for ADPKD

Since ADPKD gets worse with time, early diagnosis and treatment is critical. While signs and symptoms of ADPKD often develop between the ages of 30 and 40, individuals with a history of kidney diseases — especially if they know ADPKD is in their family — shouldn’t delay speaking with a kidney specialist, also known as a nephrologist. By acting early, they’ll be able to take steps to help protect kidney function and properly manage the disease, as well as any related complications such as high blood pressure, urinary tract infections, kidney stones, infected or bleeding cysts, abdominal bloating/discomfort and chronic pain.

Educational resources, such as, can help people have an informed conversation with a doctor about ADPKD. The website provides the latest information for understanding the disease and learning more about developing an effective management strategy such as maintaining a healthy diet, staying physically active, getting enough sleep and aiming for a healthy weight to help keep their kidneys healthy.

These things are especially important for those living with ADPKD. For more information about ADPKD visit or schedule an appointment with your doctor to learn more about your risk factors and management strategies.

By: Charlotte Jones-Burton, MD, MS, Otsuka Pharmaceutical Development & Commercialization, Inc. Dr. Jones-Burton is dedicated to creating healthier communities globally through drug development, patient advocacy and people engagement/empowerment. She is passionate about positively impacting the lives of patients and communities who suffer with chronic diseases. 

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