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Polycystic kidney disease is a pretty long term, so let’s break it down before we get into it. The kidney, as you may know, is a very significant organ in the body located right under our ribs. Even more, interestingly, we usually are born with or have two kidneys. Although there are cases where individuals can be born without one of their kidneys, this is uncommon; there are also cases in which people only have one kidney because they’ve either donated one, or they have had to get one removed due to medical concerns.
What is the function of these bean-shaped organs? Well, they act as a sort of filter for your body, as they remove waste and excess fluid from your body, as well as “remove acid that is produced by the cells of your body and maintain a healthy balance of water, salts, and minerals” [1]. This all contributes to helping our bodies function properly. In addition to these functions, “your kidneys also make hormones that help control your blood pressure, make red blood cells, [and] keep your bones strong and healthy” [1].
Now that we know more about what the kidneys are and what their function is in our bodies, we can get into this genetic disorder that very much so affects our kidneys: polycystic kidney disease. Polycystic kidney disease [PKD] “causes many fluid-filled cysts to grow in your kidneys [that] can change the shape of your kidneys, including making them much larger” [2]. So, what does this mean, exactly? Well, “PKD is a form of chronic kidney disease (CKD) that reduces kidney function and may lead to kidney failure. PKD also can cause other complications, or problems, such as high blood pressure, cysts in the liver, and problems with blood vessels in your brain and heart” [2]. Yes, it’s a lot to take in, so let’s try to break it down a bit to fully understand what all this means. Aside from possibly leading to kidney failure, which is an issue in itself because of how important the kidneys are to help our bodies function properly, PKD does cause other concerning issues. High blood pressure is a big issue because it can lead to hypertension which may then lead to a heart attack or stroke; these can be life-altering experiences, if not fatal. Cysts in the liver are usually benign, which is good news; however, in rare cases, they can become cancerous. Issues with blood vessels in your brain and heart mean that these body parts might not be getting the blood flow that they need to be getting in order to support your body to its best ability. Improper blood flow to the heart and brain may also lead to a heart attack and stroke, respectively.
Now, there are two main types of PKD which include: “autosomal dominant PKD (ADPKD), which is usually diagnosed in adulthood [...] [and] autosomal recessive PKD (ARPKD), which can be diagnosed in the womb or shortly after a baby is born” [2]. In either case, they are both genetic disorders. Furthermore, PKD does not favor race, ethnicity, gender, or age [2].
Since we have successfully covered a good amount of background information for PKD, it’s time to start getting into its cause and any symptoms that might appear with this disorder. The cause of PKD, since it is a genetic disorder, is really quite simple to explain: it’s caused by a gene mutation. However, there are different ways in which this gene mutation can occur. Most commonly, this gene mutation is passed down from a parent who also had the mutation; however, this is not always the case. Rarely, spontaneous mutation can occur, which means neither parents have the mutated gene, but the child still developed it [2]. That’s really it for what causes PKD, so, now let’s move on to symptoms that may pop up with this disease. We’ve already been over some of the symptoms of ADPKD, such as high blood pressure and kidney failure. However, “In many cases, ADPKD does not cause signs or symptoms until your kidney cysts are a half inch or larger in size” [2]. Aside from high blood pressure and kidney failure, “The most common symptoms are pain in the back and sides, between the ribs and hips, and headaches. The pain can be short-term or ongoing, mild or severe. Hematuria, or blood in the urine, may [also] be a sign of ADPKD” [3]. In order to diagnose ADPKD, healthcare providers can use imaging tests and genetic tests [3]. Imaging tests, such as ultrasounds, CT scans, and MRIs, can help healthcare providers see if there are cysts in your kidneys and keep track of their size and growth [3]. Genetic testing helps determine if those at risk or with a family history of ADPKD are “likely to develop PKD in the future” [3]. As for ARPKD, early signs can include an enlarged kidney, growth failure, and low levels of amniotic fluid [4]. An enlarged kidney can be an early sign detected in the womb or as an infant, growth failure is when “children with ARPKD are [...] smaller-than-average size” because of improper kidney and lung function, and low levels of amniotic fluid occur in the womb and “can cause breathing problems in the fetus” [4]. An ultrasound test can be used to “show enlarged kidneys and liver scarring” [4].
We’ve gone over signs and symptoms and how different types of PKD are diagnosed, but is there any way to prevent PKD? Unfortunately, the short answer is no; “researchers have not yet found a way to prevent PKD” [2]. However, there are some treatments you can get and lifestyle changes you can make in order to slow the effects and lessen the symptoms of PKD. Common treatments for PKD include blood pressure management, breathing support for infants, dialysis to filter your blood, growth therapy for infants, a kidney transplant, and pain management [5]. Taking blood pressure medicine may be what you need in order to properly manage your blood pressure. “Two types of blood pressure medicines, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), may slow kidney disease and delay kidney failure” [2]. Many of the lifestyle changes one can make are for lowering and managing blood pressure. Some lifestyle choices you can make include [2]:
● Losing weight, if you are overweight, to help protect your kidneys and not push them too hard
● Reducing stress, which “can raise your blood pressure” [2]
● Participating in regular physical activity to “help you reduce stress, manage your weight, and control your blood pressure” [2]; Aim for at least 30 minutes every day.
● Trying to get 7 to 8 hours of sleep every night to “help you manage your blood pressure and blood glucose, or blood sugar” [2]
● Trying to quit smoking since it “can raise your blood pressure, making your kidney damage worse” [2]
● Having a healthier diet; A healthy diet can mean different things for everyone since everyone’s bodies work differently, especially when it comes to having certain diseases and disorders. In order for individuals with PKD to get the best diet plan for them, it would be best to consult a dietician so they can help figure out which foods and drinks may help and which ones may hurt.
Living with PKD may not be easy, but there are definitely things individuals can do to help slow the effects of PKD and make their quality of life better. Finding the treatment and lifestyle that works best for you and your body is the most important thing to do when it comes to living with any disease or disorder; regular testing and checkups with healthcare providers, along with listening to your body, are essential.
References:
1. U.S. Department of Health and Human Services. (2018, June). Your Kidneys & How They Work. National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved March 19, 2023, from https://www.niddk.nih.gov/health-information/kidney-disease/kidneys-how-they-work
2. U.S. Department of Health and Human Services. (2017, January). What is Polycystic Kidney Disease? National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved March 19, 2023, from https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd#common
3. U.S. Department of Health and Human Services. (2017, January). Autosomal Dominant Polycystic Kidney Disease. National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved March 19, 2023, from https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-dominant-pkd#symptoms
4. U.S. Department of Health and Human Services. (2017, January). Autosomal Recessive Polycystic Kidney Disease. National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved March 19, 2023, from https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-recessive-pkd#early-signs
5. Cleveland Clinic. (2021, February 3). Polycystic Kidney Disease (PKD): Signs, Symptoms & Treatment. Cleveland Clinic. Retrieved March 19, 2023, from https://my.clevelandclinic.org/health/articles/5791-polycystic-kidney-disease
Contributors:
Author: Lauryn Agron
Editor: Kayjah Taylor
Health scientist: Naiya Upadhyay