SPONSORED CONTENT -- (StatePoint) Polycystic Kidney Disease (PKD) is a rare disease that can be passed down from generation to generation within families. This condition causes numerous cysts to grow in the kidneys, resulting in the kidneys enlarging and losing function over time. Additionally, nearly 50 percent of affected patients over age 60 will experience kidney failure or end stage renal disease (ESRD). The most common form of PKD is Autosomal Dominant Polycystic Kidney Disease (ADPKD) which, according to the National Kidney Foundation, accounts for nearly 90 percent of all PKD cases.

ADPKD affects an estimated 140,000 Americans. While relatively rare, it is the most common inherited kidney disease and the fourth leading overall cause of end-stage kidney disease or kidney failure. As a progressive condition, ADPKD may eventually lead to kidney failure requiring some form of renal replacement therapy, such as dialysis or kidney transplant.

“Although seemingly rare, ADPKD is quite prevalent and affects many families generation after generation. In fact, children of parents with ADPKD have a 50 percent chance of inheriting the disease, and spontaneous mutations can occur in new generations as well,” says Meyeon Park, MD, MAS, director of the UCSF Polycystic Kidney Disease Center of Excellence and nephrologist, University of California, San Francisco, School of Medicine. “This emphasizes the importance of people with a family history of PKD discussing the condition with their relatives, as well as the importance of speaking with a doctor who specializes in kidney care as early as possible.”

Diagnosing ADPKD

ADPKD is typically diagnosed by an ultrasound of the kidneys; however, a computerized tomography (CT) scan or magnetic resonance imaging (MRI) scan may also be conducted. Genetic testing may sometimes 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 they can pass the gene on to their children, and for diagnosis of possible kidney donors.

Using the latest technologies, physicians can now identify ADPKD patients at risk for rapid progression of kidney function decline as well as estimate how quickly someone with ADPKD is likely to progress to kidney failure 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 as patients with rapidly progressing ADPKD reach end stage renal disease at a younger age.

Disease Management Strategies

Early diagnosis and treatment are critical for ADPKD patients, since this disease progressively gets worse over time and cannot be reversed. While signs and symptoms often develop between ages of 30 and 40, individuals with a history of kidney diseases – and especially if ADPKD runs in the family – shouldn’t delay speaking with a kidney specialist, also known as a nephrologist. By acting early, individuals may 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 or discomfort and chronic pain.

“Take advantage of educational resources, such as www.ADPKDQuestions.com, to better understand the disease, available disease management strategies and recommended lifestyle changes, such as maintaining a healthy diet and staying physically active,” continues Dr. Park, MD, MAS, director of the UCSF Polycystic Kidney Disease Center of Excellence and nephrologist, University of California, San Francisco, School of Medicine. “Being an empowered patient early on will help foster informed conversations about ADPKD with both relatives and health care providers, and may ultimately help to delay disease progression.”

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