By Dr. Nelson Kopyt, Contributor
Dr. Kopyt is a paid consultant of Otsuka America Pharmaceutical, Inc.
Family history often reveals important health information for individuals. This history can be used as a roadmap for important health decisions — especially for those living with genetic diseases that run in the family. One hereditary disease is Autosomal Dominant Polycystic Kidney Disease (ADPKD). Many people may be unaware of the risk factors, symptoms, and disease itself, including those with a genetic link to the condition who may be unaware of any risk at all.
ADPKD: The most common inherited kidney disease
Although ADPKD is a rare disease, it is also the most common inherited kidney disease. ADPKD is characterized primarily by the development and progressive enlargement of fluid-filled kidney cysts. Cysts enlarge and damage the kidneys impairing their ability to function normally, which may lead to end stage renal disease (ESRD), eventually requiring dialysis or a kidney transplant. In fact, ADPKD is the fourth leading cause of kidney failure, which occurs in about 50 percent of all impacted patients over the age of 60.
While roughly 140,000 Americans are currently diagnosed with ADPKD, children of a parent with the disease have a 50 percent chance of developing the condition themselves. I educate my patients regarding the chance of passing ADPKD on to their children also encouraging them to discuss and share this information along with their own experience living with this condition with their families. For example, I encourage my patients with ADPKD to discuss their diagnosis stories, symptoms, and management strategies with friends and family, including others living with ADPKD. I find that this open communication not only helps my patients by giving them a stronger support system, but also enables more information sharing on this disease among a population it directly impacts.
Patients with ADPKD may go about their lives with no noticeable symptoms for years while the disease progresses internally, resulting in a delayed diagnosis of this irreversible condition. This means that early detection is a key factor to slowing disease progression. It is important to assess kidney size in people who have a genetic connection or other indicator, such as high blood pressure, for being at risk for ADPKD.
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. If physicians are only monitoring estimated glomerular filtration rate (eGFR), which is a common test to measure kidney function, they could be missing a key factor in assessing ADPKD progression among their patients: kidney size. In some patients, physicians can now identify those who are at risk for rapid decline in kidney function, as well as estimate how quickly someone with ADPKD is likely to progress based on the size of his or her kidneys. Research shows that even just one kidney scan can assess the rate of progression and predict the future decline of kidney function.
Who is affected most by ADPKD?
Family history, kidney size, number of cysts, and other health issues are all considered when diagnosing ADPKD. There are also factors that may put a patient at greater risk for the rapid progression of ADPKD. This includes high blood pressure or urologic complaints such as blood in the urine, kidney pain, kidney infections in a cyst, or kidney stones before age 35; having a family history of people younger than age 58 developing kidney failure; experiencing a fast drop in eGFR or has a certain type of inherited genetic mutation associated with ADPKD. Further, data suggests that Black individuals with ADPKD often experience worse outcomes due to delayed diagnosis, slower referrals to nephrologists, and earlier progression to end-stage renal disease.
This is why it is so critical for families with ADPKD to discuss the disease and management options with relatives. It’s important for people to know the symptoms and risk factors associated with ADPKD, especially if they have a genetic link, so they can talk to their physician about being monitored and screened.
Proven management strategies can delay disease progression
There are a variety of lifestyle changes and management strategies that may help to delay disease progression for those living with ADPKD. For example, patients should maintain a healthy diet and stay physically active, as appropriately deemed by their doctor, get enough sleep, and aim for a healthy weight.
There is more that we can do to help patients manage this condition to potentially retain kidney function compared to just 10 or 15 years ago. For example, a prescription treatment called JYNARQUE® (tolvaptan) is the first and only U.S. Food and Drug Administration-approved treatment indicated to slow kidney function decline in adults at risk of rapidly progressing ADPKD. JYNARQUE can cause serious liver problems that can lead to the need for a liver transplant or can lead to death. Important Safety Information for JYNARQUE is available at the end of this article. I recommend people have an informed discussion with their doctors to see if this treatment is right for them.
Informed conversations are the first step in helping people to understand family history, identify potential risk factors related to ADPKD, and if necessary, take an active role in determining the best course of treatment.
Please see IMPORTANT SAFETY INFORMATION, including the BOXED WARNING, below.
To learn more, visit JYNARQUE.com
IMPORTANT SAFETY INFORMATION and INDICATION for JYNARQUE® (tolvaptan)
- Serious liver problems. JYNARQUE can cause serious liver problems that can lead to the need for a liver transplant or can lead to death. Stop taking JYNARQUE and call your healthcare provider right away if you get any of the following symptoms:
- feeling tired
- loss of appetite
- right upper stomach (abdomen) pain or tenderness
- yellowing of the skin and white part of the eye (jaundice)
- dark urine
It is important that you have a blood test before you start JYNARQUE to help reduce your risk of liver problems. Your healthcare provider will do a blood test to check your liver:
- before you start taking JYNARQUE
- at 2 weeks and 4 weeks after you start treatment with JYNARQUE
- then monthly for 18 months during treatment with JYNARQUE
- and every 3 months from then on
Because of the risk of serious liver problems, JYNARQUE is only available through a restricted distribution program called the JYNARQUE Risk Evaluation and Mitigation Strategy (REMS) Program.
Do not take JYNARQUE if you:
- have a history of liver problems or have signs or symptoms of liver problems, excluding polycystic liver disease
- cannot feel if you are thirsty or cannot replace fluids by drinking
- have been told that the amount of sodium (salt) in your blood is too high or too low
- are dehydrated
- are allergic to tolvaptan or any of the ingredients in JYNARQUE
- are unable to urinate
Tell your healthcare provider about all your medical conditions, including if you:
- have a history of sodium (salt) levels that are too low
- are pregnant or plan to become pregnant. It is not known if tolvaptan will harm your unborn baby. Tell your healthcare provider if you become pregnant or think that you may be pregnant
- are breastfeeding or plan to breastfeed. It is not known if tolvaptan passes into your breast milk. Do not breastfeed during your treatment with JYNARQUE. Talk to your healthcare provider about the best way to feed your baby during this time
Tell your healthcare provider about all the medicines you take, including prescription medicines, over-the-counter medicines, vitamins, and herbal supplements.
- Taking JYNARQUE with certain medicines could cause you to have too much tolvaptan in your blood. JYNARQUE should not be taken with certain medications. Your healthcare provider can tell you if it is safe to take JYNARQUE with other medicines
- Do not start taking a new medicine without talking to your healthcare provider
JYNARQUE may cause serious side effects, including:
- Too much sodium in your blood (hypernatremia) and loss of too much body fluid (dehydration). In some cases, dehydration can lead to extreme loss of body fluid called hypovolemia. You should drink water when you are thirsty and throughout the day and night. Stop taking JYNARQUE and call your healthcare provider if you cannot drink enough water for any reason, such as not having access to water, or vomiting or diarrhea. Tell your healthcare provider if you get any of the following symptoms:
- weight loss
- a change in the way your heart beats
- feeling confused or weak
What should you avoid while taking JYNARQUE?
Do not drink grapefruit juice during treatment with JYNARQUE. This could cause you to have too much tolvaptan in your blood.
The most common side effects of JYNARQUE are:
- thirst and increased fluid intake
- making large amounts of urine, urinating often, and urinating at night
These are not all the possible side effects of JYNARQUE. Talk to your healthcare provider about any side effect that bothers you or that does not go away. For more information, ask your healthcare provider or pharmacist.
If you have any questions about your health or medicines, talk to your healthcare professional.
To report SUSPECTED ADVERSE REACTIONS, contact Otsuka America Pharmaceutical, Inc. at 1‑800‑438-9927 or FDA at 1-800-FDA-1088 (www.fda.gov/medwatch).
What is JYNARQUE?
JYNARQUE is a prescription medicine used to slow kidney function decline in adults who are at risk for rapidly progressing autosomal dominant polycystic kidney disease (ADPKD). It is not known if JYNARQUE is safe and effective in children.
Please read FULL PRESCRIBING INFORMATION, including BOXED WARNING, and MEDICATION GUIDE.
September 2021 10US21EBC0168