Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder that affects about 1 in every 1,000 people. As the most common inherited kidney disease, ADPKD accounts for nearly 5% of patients who eventually develop end-stage kidney disease (ESKD).
The condition is caused by genetic mutations primarily in one of two genes — PKD1 and PKD2 — which lead to the formation of fluid-filled cysts in the kidneys, among other effects These cysts grow over time, often crowding out healthy kidney tissue and impairing kidney function.
The growth of these cysts can lead to kidney failure, eventually requiring dialysis or a kidney transplant. As the cysts enlarge, patients may also experience symptoms such as early satiety (feeling full quickly), back pain, and abdominal discomfort.
How ADPKD is diagnosed and managed?
ADPKD is often identified through imaging studies, like ultrasounds or CT scans ordered by a doctor, especially when a patient has a family his-tory of the condition. Interestingly, about 25% of new cases occur in individuals with no prior family history. This can result from a new, spontaneous mutation or in situations where patients have limited knowledge about their family health history.
In addition to kidney cysts, patients with ADPKD often experience early-onset high blood pressure (hypertension) and are more prone to developing kidney stones. These issues often prompt imaging tests, which can ultimately lead to a diagnosis of ADPKD.
Genetic testing has become much more accessi-ble in recent years. It can help confirm the diagno-sis and offer valuable information on the specific genetic mutation present, providing patients with a deeper understanding of their condition.
Once diagnosed, patients can benefit from life-style changes to manage the disease. For example, increasing fluid intake may help slow cyst growth by suppressing antidiuretic hormone (ADH), which encourages cyst growth.
Controlling blood pres-sure is particularly important in ADPKD patients, and stricter blood pressure control is typically recommended compared to patients without the condition. The approval of Tolvaptan in 2018 has been a significant development in ADPKD care.
This medication blocks ADH and is specifically targeted at patients with ADPKD who are at risk for rapid progression. Tolvaptan can significantly slow the progression of the disease, potentially adding valuable years before patients require dialysis or a kidney transplant. Its use requires special monitor-ing and management by a nephrologist.
Coinciding with the arrival of Tolvaptan, new methods for assessing kidney disease progression in ADPKD patients have been developed. One such method involves measuring a patient’s height-ad-justed total kidney volume through specialized imaging.
This measurement allows doctors to track how quickly the disease is advancing, predict which patients are at risk for rapid progression, and identify those who will benefit most from treatments like Tolvaptan.
A personal commitment to ADPKD care?
For more than 10 years, I’ve had the good for-tune of specializing in the care of patients with ADPKD. My training in this field began when my in-stitution participated in clinical studies of Tolvap-tan.
I’ve been among the first nephrologists in the state to incorporate its use into the management of patients after its approval. This experience helps me guide patients and work through any complications that may arise.
Because ADPKD is a familial condition, I often have the privilege of caring for multiple gener-ations in a family. It’s an incredibly rewarding experience to get to know families and guide them through the complexities of this condition togeth-er.
Comprehensive care at NAPC
At Nephrology Associates, P.C. (NAPC), we are proud to offer comprehensive care for patients with ADPKD. Our team has the expertise needed to diagnose and manage ADPKD, from early-stage care to addressing complications as the disease progresses.
We have experience interpreting the specialized imaging needed to characterize the disease, obtaining genetic analysis, and providing treatment. We also work closely with kidney transplant centers, providing proactive referrals for patients who may benefit from a kidney transplant.
At NAPC, we’re dedicated to guiding our patients every step of the way, helping them navigate the complexities of ADPKD treatment. If you or a loved one has been diagnosed with ADPKD or is experiencing related symptoms, don’t wait to seek help.
Contact us today to schedule an appointment, learn more about your treatment options, and take control of your kidney health.