What Is Polycystic Kidney Disease?

A genetic disorder, Polycystic Kidney Disease, leads to the forming of various cysts loaded with fluid in the kidneys. As opposed to the more common benign kidney cysts that might form into your kidneys as you age, PKD cysts can alter the shape of the kidneys, which can cause them to swell in size.

Chronic Kidney Disease (CKD) known as PKD can weaken kidney performance and end in total renal incapacity. Polycystic Kidney Disease could further lead to hypertensive issues, liver-associated cysts, and vascular complications affecting the brain and heart.

What are the types of PKD?

The two main types of PKD are

• autosomal dominant PKD (ADPKD), which is usually diagnosed in adulthood
• autosomal recessive PKD (ARPKD), which can be diagnosed in the womb or shortly after a baby is born

How common is PKD?

PKD is one of the most common genetic disorders. PKD affects about 500,000 people in the United States.1

ADPKD is estimated to occur in somewhere between 1 out of every 400 and 1000 people around the globe, while ARPKD may show up in 1 of every 20,000 infants.

Who is more likely to have PKD?

People from all age groups, racial backgrounds, and ethnicities everywhere in the world are impacted by PKD. The disorder occurs equally in women and men.

What causes PKD?

A gene mutation, or defect, causes PKD. In the majority of polycystic kidney disease occurrences, a child inherits the genetic mutation from one of their parents. In some cases of PKD, the mutated gene developed spontaneously, without either of the parents having it. This kind of mutation is called “spontaneous.” To learn more about genes and genetic conditions visit the National Institute of Health’s website.

What are the signs and symptoms of PKD?

The symptoms linked to ADPKD, such as discomfort, hypertension, and renal impairment, are also considered problems of PKD. Typically, indications of Autosomal-Dominant Polycystic Kidney Disease will not emerge until the cysts on the kidneys get to be at least 0.5 inches in dimension.

In the uterus, hints of ARPKD could include kidneys that are larger than usual as well as a baby that is smaller than its expected size—known as growth limitation. The early signs of ARPKD are also complications. Despite this, some individuals with Autosomal Recessive Polycystic Kidney Disease demonstrate no outward indicators until they are older children or grown-ups.

Can I prevent PKD?

Scientists have not identified a solution to forestall Polycystic Kidney Disease yet. Nonetheless, you could possibly decelerate the ailments brought about by hypertension connected to PKD, for example kidney impairment. Try to get your blood pressure to a level below 120 over 80. Collaborate with a health care staff to facilitate the handling of your or your offspring’s PKD. A health care squad is probable to contain a regular doctor and a nephrologist, a medical attendant focusing on kidney well-being.

What can I do to slow down PKD?

If you or your child are diagnosed with Polycystic Kidney Disease (PKD) as soon as possible, it is less likely that the severity of the illness will worsen. If you or your child may have Polycystic Kidney Disease (PKD), testing can help you take control sooner.

You can also take steps to help postpone or stop kidney failure. Engaging in healthy habits like exercising, mitigating stress, and kicking the smoking habit can contribute to a better life.

Make lifestyle changes

Engage in physical activity for at least half an hour regularly. Consistent exercise can aid in minimizing tension, keeping your weight in check, and managing your blood pressure. Find out from your health care provider what kind and how much physical activity would be suitable for you if you are not currently active.

A health care provider should conduct a magnetic resonance imaging (MRI) scan in order to determine the safety of participating in contact sports such as football or hockey. Injury to your body, particularly to your back and side regions, could lead to the rupture of kidney cysts.

Lose weight. Being overweight makes your kidneys work harder. Losing weight helps protect your kidneys.

Target seven to eight hours of rest each night. It is essential for both mental and physical wellbeing that the body be allowed sufficient rest, which may also help maintain balanced blood pressure and glucose levels.

Reduce stress. Prolonged stress over a lengthy period of time can have a negative effect on your blood pressure and can result in developing depression. Some of the actions you take to oversee your PKD can also be seen as beneficial ways of dealing with stress. An illustration of this is that exercising and sufficient rest can lessen tension.

Quit smoking. Smoking cigarettes can cause your blood pressure to spike, exacerbating any damage to your kidneys. Giving up cigarettes could aid you to accomplish your objectives pertaining to blood pressure, and that is beneficial for your kidneys and stops you from having a stroke or cardiac arrest. It is immensely essential for individuals suffering from Polycystic Kidney Disease (PKD) who possess aneurysms to stop smoking. A bulging of the wall of a blood vessel is known as an aneurysm. For tips on quitting, go to Smokefree.gov External link.

Change what you eat and drink

You may need to make adjustments to your diet and beverage choices in order to manage your blood pressure and safeguard your kidneys. Anyone who is affected by any sort of renal disorder, including Polycystic Kidney Disease, should consult a nutritionist about the types of food and beverages that should be included in their balanced diet, as well as which may be hazardous. Drinking adequate amounts of liquids may help retard the development of PKD that leads to kidney failure. Research what foods and beverages one should consume if they have Polycystic Kidney Disease or are at risk for it.

Take blood pressure medicines

If altering your habits and eating habits does not bring your blood pressure down, a medical professional may offer a prescription for one or multiple blood pressure medications. There are two types of blood pressure medications, ACE inhibitors and ARBs, which can impede the progression of kidney disease and postpone renal decline. These drugs all have labels that finish with either -pril or -sartan.

BONUS: Polycystic Kidney Disease (PKD) – with Dr. Amy Mottl

What are the characteristics of polycystic kidney disease (PKD) and what methods are used to identify and manage it? Dr. Amy Mottl and Dr. Ron Falk have a discussion regarding the genetic disorder and the possible consequences it can evoke. She also discusses new treatments available for patients. Dr. Mottl is a Medical Associate Professor in the Kidney Department of UNC.

The cysts can reach a considerable size and quantity, while the kidneys expand concurrently. In some cases, these individuals’ kidneys will be substantially bigger than normal, which is typically the size of a closed fist. It is not unusual for them to be the size of a football or even bigger.

– Dr. Amy Mottl

Greetings and warm welcome to you from the Head of the Department of Medicine at the University of North Carolina. This is Dr. Ron Falk speaking.

In this series, we will be discussing various genetic disorders with medical professionals who care for individuals living with those ailments. Last week we talked about cystic fibrosis. At present, we will be discussing a mutual genetic affliction known as polycystic kidney disease.

Our Division of Nephrology is very pleased to have Dr. Amy Mottl join us as an Associate Professor of Medicine. Doctor Mottl specializes in genetics and treating renal issues, and gives care to people with PKD (polycystic kidney disorder) at the University of North Carolina. Welcome, Dr. Mottl.

Amy Mottl, MD, MPH: Thank you.

Polycystic kidney disease and diagnosis

Falk: What is polycystic kidney disease, or PKD?

Mottl states that PKD is the most prevailing hereditary affliction that impacts the kidneys. Approximately between 0.25 and 0.1 percent of newborns are born with a mutation of polycystic kidney disease. It is possible that a few people who possess the genetic mutation will not suffer from any effects as the disease is slow to develop and does not usually create a noticeable illness. Nevertheless, the overwhelming majority will have a grave, long-term kidney disorder that frequently culminates in end stage kidney disease, necessitating dialysis or a kidney transplant.

Falk: It’s a broad spectrum of disease outcome. How do you recognize the disease? How do you diagnose polycystic kidney disease?

Mottl suggests that there are two possibilities for diagnosing people suffering from PKD. Typically, before the current genetic advancements we possess, imaging studies were conducted to examine the kidneys.

Falk: Ultrasounds.

Mottl suggests that ultrasounds typically serve as the initial testing since they are both cost-effective and harmless.

Falk: What do you see?

Mottl: The outcome is contingent upon the severity of a patient’s illness. Early in the disease process, no cysts may be present in the patient. Most people in childhood will not exhibit any symptoms. As individuals reach advanced age, it becomes necessary to utilize a larger number of cysts in order to ascertain the diagnosis of a patient. If you are 30 or younger, typically you would need to have a minimum of three cysts in one or both kidneys. It is quite typical for somebody to develop cysts as they age, particularly in their later years. In a lot of cases with elderly individuals in their seventies, it is necessary to find four cysts in each kidney to create an accurate diagnosis.

These cysts are capable of getting quite large and extensively spread, while the kidneys develop at the same time. A few of the individuals will have kidneys that are as large as, or larger than, a football, whereas a regular kidney is about the size of a closed hand. We’ll see large kidneys with lots of cysts.

Falk: What does a cyst actually look like?

Mottl: It’s a fluid-filled pocket, essentially. As I previously mentioned, enlarged renal sinus fat can develop as part of the natural process of aging or due to an ongoing kidney disorder from any underlying cause. These enlarged pockets of fat can become quite large, taking up a considerable amount of the healthy kidney tissue. The hypothesis is that this is the explanation for people’s deteriorating chronic kidney disease.

Dr. Falk stated that cysts, basically round shapes which are filled with liquid, become bigger and put pressure on normal kidney tissue, causing a decrease in kidney performance over time.

Mottl: Correct.

Treatment for PKD

Falk: Let’s talk a little bit about treatment. Ensuring that hypertension (high blood pressure) is effectively managed is an approach to take. This starts with lowering the blood pressure, and if there is protein in the urine, then drugs aimed at reducing blood pressure can help reduce the amount of protein, too.

Mottl: Right. A specific type of drug, referred to as renin-angiotensin inhibitors, can obstruct a chain of hormones that could be influential in the development of high blood pressure and the presence of protein in the urine. By taking these medications, it can affect both of these aspects.

Falk wants to know whether medical approaches exist to address the root cause of polycystic kidney disease, as well as whether treatments are available to decrease the size and rate of growth of cysts.

Mottl remarked that it was fascinating to note that there was a category of drugs known as antagonists of antidiuretic hormones.

Falk: ADH inhibitors.

Mottl states that Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a malfunction in the protein that advises the cell how to interact with its external surroundings.

ADPKD is known as a ciliopathy due to it being located on cilia that extend from a cell and allow it to detect the environment that it is in. Cilia are thin, finger-like projections that come out of the cell. The cilia in question are positioned on cells that form a lining for the tubes that carry the filtered urine from the kidney.

The alteration in genes present in those with ADPKD disrupts a route within the cilia that enables it to react to the conditions within the ducts that allow for pee to move around. ADH (antidiuretic hormone) can produce further issues if its secretion is not regulated. By stopping the hormone from functioning, we can impede the growth of this disorder. In May 2018, the FDA gave the go-ahead to a medication that carries out this precise action. It’s called Jynarque.

The main problem with this medication is that it leads to a lot of adverse reactions. High levels of this medication can raise liver enzyme numbers, increasing the risk of liver damage. It’s extremely difficult for people to withstand this particular drug, as it blocks the action of antidiuretic hormone, thus preventing the kidneys from reabsorbing water from the urinary tract and causing all ingested liquid to be excreted through urination. People have an overabundance of urination, termed polyuria, that can lead to dehydration if the person does not consume sufficient liquids. Patients are required to consume significant amounts of water which may, unfortunately, interfere with their daily lives, especially when they’re looking to get a good night’s rest.

Falk stated that while the kidneys filter approximately 180 quarts of blood on a daily basis, the body only excretes between one and a half to two and a half quarts of urine due to their great capacity to absorb the surplus. The kidney is able to conserve water by producing the hormone, antidiuretic hormone (ADH). You are referring to the inhibition of antidiuretic hormone that results in frequent urination and thus necessitates consuming a lot of H2O.

Mottl noted that in the trials, around a quarter of the participants were unable to proceed with treatment due to their inability to bear the drug’s effects.

Falk commented that the method had some success, although limited.