Visiting family over the holidays was quite wonderful, allowed me some self-reflection, and reminded me that I should probably investigate the genetic disorder, Polycystic Kidney Disease (#PKD). This is a condition that causes many fluid-filled cysts to grow inside the kidneys, and significant enough that they actually change the shape of the kidneys and make them much larger than is normal. This is typically a disorder that occurs much later in life, and it is a form of chronic kidney disease that reduces function and may lead to kidney failure. The kidneys are important for blood pressure regulation, so high blood pressure can accompany PKD, and these individuals also tend have problems with the blood vessels in their brain and heart, and cysts in their liver.
There are two different types of PKD, one which is typically diagnosed via ultrasound while still in the womb or shortly after birth (autosomal recessive) and the other is diagnosed into adulthood (autosomal dominant). Autosomal dominant requires only one parent to offer the gene (heterogenetic), and researchers have found two different gene #mutations that express ADPKD. Most people with ADPKD have defects in the PKD1 gene on chromosome 16, and one of six-or-seven have a defect in the PKD2 gene on chromosome 4. Given the dominant nature of transmission, there is at least a 50 percent probability that a child of an affected parent will inherit the disease. It is one of the most common genetic disorders affecting about 500,000 people in the United States, or one in every four hundred to 1,000 people in the world.
PKD affects people of all ages, races, and ethnicities worldwide. The disorder occurs equally in women and men. It's simply a gene mutation, or what we now more commonly called a #genetic variation. In most cases, this gene is passed down from parent to child, although in a small number of PKD cases (about 5 percent), the gene mutation developed spontaneously on its own, without either parent carrying a copy of the mutated gene.
We start to consider the potential for #ADPKD when individuals are experiencing high blood pressure, pain in their lower back, and have some level of kidney failure without other known causes. The cysts at diagnosis though, are typically about a half inch or larger in size, so no signs or symptoms are present for a few decades while these cysts slowly eliminate nephrons. Initially this leads to extra effort from the kidneys, but as the filtration rate slows, renal insufficiency becomes more apparent. More often the first indications are abdominal or flank pain, blood in the urine, or frequent urinary tract infections.
These infections are typically the result of E coli, although occasionally are Staph aureus, Enterococcus, or Lactobacillus (Srivastava & Patel, 2014), but sometimes these cultures can result in a negative culture when infected renal cysts are not in contact with the urinary space. Antibiotics with the ability to penetrate renal cysts include fluoroquinolones, third-generation cephalosporins, and trimenthoprim/sulfamethoxazole. Renal stones, or nephrolithiasis, is twice as common in those with ADPKD.
Gross hematuria, or blood in the urine, occurs in more than 40 percent of those with ADPKD and is an indicator of rapid progression. There is no cure though, for ADPKD, so the goal is to optimize health to reduce progression and once diagnosed, to manage symptoms.
Can I Prevent PKD?
Since this has been diagnosed in an immediate family member of mine, of course, I am curious what I can do to prevent its presentation in myself. Researchers are unaware of any specific action that may prove helpful; however, anything we can do to maintain healthy blood pressure will be advantageous. Protecting the health of your arteries by not smoking and controlling your #cholesterol is also important.
The sooner the diagnosis is made the better, because then we can monitor and support to the best of our ability. Those with PKD1 can be identified sooner, more often, because their symptoms appear sooner in life; however, this one also progresses more quickly to kidney failure. This progression though really does differ from person to person.
Pain is a significant indicator for PKD which may result from infection within one or more of the cysts or from the bleeding that results from cysts that burst. Urinary tract infections can cause increased pain and be related to this condition, as can kidney stones, but also, as the kidneys enlarge, the tissue around the kidney will stretch and create some discomfort. Pain from the kidneys can be a bit vague, but any pain in the back or sides, between the ribs and hips, or even headaches, should be reported to the primary care provider, as should any presence of blood in the urine. The pain can be short term or ongoing, mild or severe.
We can't not further evaluate kidney function when individuals have heart disease, as they are integral to management of blood pressure. Diagnosis may be realized at this time. Lack of stability in the health of the vessels can also result in #stroke, so this is an incredibly important aspect of slowing the progression of this disease or at least its consequences.
What is Kidney Failure?
When the kidneys essentially fail to function, at least well enough to keep you healthy, we consider this renal failure. Untreated, kidney function can result in coma and death. At first there may not be any symptoms, but as failure advances, fatigue, difficulty sleeping, dry skin, increased or decreased frequency in urination, itching, muscle cramps, nausea and vomiting, weight loss, and edema may be more prevalent. More than half of those with PKD over the age of 70 years, are ultimately diagnosed with kidney failure. Certainly not everyone does suffer kidney failure and PKD does not seem to be associated with cancer in the kidneys.
Developing abnormal blood vessels or heart valves is a risk causing too little blood flow into the aorta, the largest blood vessel from the heart to the rest of your body. Rarely, these valves may need to be replaced. If a heart murmur is found during your physical exam, your provider will order further tests. We have to also have to consider brain #aneurysms, or a bulge in the wall of the blood vessel, which are twice as likely in those with ADPKD. These can cause pretty severe headaches, so if you're often taking medications for headaches or have a severe one that won't go away, connect with your provider. These can rupture and then bleeding would occur within the skull. Larger aneurysms can be life threatening.
The most common non-kidney complication of ADPKD are liver cysts, which usually don't cause symptoms in those younger than 30 years. It is rare, but in some, these will impact liver function and potentially require liver transplant. Estrogen can impact these so women are much more likely to have cysts than men. The more pregnancies a woman has, the more likely she will have liver cysts (Torres & Grantham, 2011). Consequently, oral contraceptives containing estrogen and menopausal estrogen therapy should be minimized or avoided entirely (Srivastava & Patel, 2014).
These cysts can also occur in the pancreas, rarely leading to #pancreatitis, or even diverticula in the colon leading to #diverticulosis. Many men with ADPKD have cysts on their seminal vesicles, which may, although rarely, cause infertility.
How is Diagnosis of ADPKD made?
Imaging tests will be ordered, as well as genetic testing. We can then diagnose based on test results, combined with age, family history, and the number of cysts found on imaging. We typically start with an ultrasound, which is painless and fairly inexpensive. CT scans in combination with x-rays may also be ordered, which offer more detailed images of kidney cysts. We use MRIs to measure the kidney and cyst size, and monitor kidney and cyst growth to track the progress of PKD.
Family history of ADPKD are candidates for screening, typically with imaging studies. Since no interventions are known to prevent cyst development, screening should be delayed until at least 18 years of age. If diagnosis is made, individuals are encouraged to inform their first-degree relatives so they can be screened as well.
Genetic testing is not standard practice, but it is useful in certain scenarios, such as in those who are young without symptoms, but they do have risk or in those who do not have family history but they have a serendipitous finding of enlarged kidneys with renal cysts on imaging. A #geneticist may be part of your team, if diagnosed. Either a blood sample or saliva can offer you a glimpse at your genes, those which can cause ADPKD.
Management of Disease
If ADPKD is ultimately diagnosed, again, managing blood pressure is vital. Pain management may also be a significant part of treatment, but the source must first be identified. If this pain is from growth of cysts, aspirin and acetaminophen can be helpful. We don't recommend ibuprofen though, as this is a bit harder on your kidneys and can lead to acute kidney injury. Surgery is another option, as this can shrink cysts and help pain in the back and sides, for a while. However, surgery does not slow the overall progress towards kidney failure. If ADPKD eventually causes kidney failure then dialysis or kidney transplant may prove life-saving.
The basics are not just platitude. Eating well and moving daily is absolutely necessary. Moving at least thirty minutes a day, every day offers a plethora of benefits. This can build bone strength, increase muscle mass, move blood and lymph which helps detoxify the body and help regulate blood sugar. Movement also helps manage body weight and control blood pressure which reduces work load on the kidneys.
Activity can also decrease stress, which is profound for optimizing health. Seven to eight hours of sleep each night not only helps manage stress, but also improves your body's effort to minimize your body's overall toxic burden. Trauma to the back or sides can be significant enough to cause rupture of the kidney, due to the abundance of cysts. Contact sports may be limited, but maintaining flexibility, balance, and coordination can maximize vitality and reduce risk for falls.
Avoiding processed foods is important for assisting in managing your sodium intake. Aim for less than 2,300 milligrams daily. Buy fresh foods, as prepared or packaged foods can have an alarmingly high sodium content. Cook foods from scratch using spices, herbs, and sodium-free seasonings in place of salt. If the label of any product offers more than 20 percent of the daily value in sodium, then this is too high. Try lower-sodium versions or again, cook at home. Rinse canned vegetables, beans, meats, and fish with water before eating.
When your body uses protein, it produces waste which increases work on your kidneys. Eating more protein than you actually need will only progress your kidney disease. Try eating smaller portions or protein foods, which include both plant and animal sources. Think heart healthy foods as well. Grilled, broiled, baked, roasted, or stir-fried foods are better than those deep fried. Limit saturated and transfats. Limit or avoid alcohol entirely, as well as all soda. As your kidneys really start to slow down, you may need to limit your intake of foods with more phosphorus and potassium as these can build up in your blood if your kidneys aren't functioning well. These would include foods like deli meats and some fresh meats and poultry. Dark-colored sodas are especially bad, as are canned iced teas and fruit punch.
The best foods for kidney health include vegetables, fruit, legumes, whole grains, and cereals, all of which are excellent sources of dietary fiber. Foods to avoid with chronic kidney disease are red meat, slat, and refined sugars. The Mediterranean diet and DASH diets are well supported for kidney disease.
Are There Natural Approaches?
There are a number of supplements that can help improve kidney health, but depending on the progression of kidney health, some can be more harmful, especially those with potassium and phosphorus. Connect with your integrative practitioner before self-prescribing, but consider asking about alpha lipoic acid. This antioxidant is utilized for a variety of reasons, including kidney and cardiovascular disease. Often I recommend this supplement for my diabetic clients, as it is great for reducing neuropathy, but it crosses the blood brain barrier as well, so I am often using it to support brain health. A randomized controlled trial in patients undergoing hemodialysis found that ALA supplementation may increase the activity of certain antioxidant enzymes that protect against oxidative stress and oxidative disorders, including cardiovascular disease (Mahdavi et al., 2019).
Probiotics are always a good idea when working to optimize overall health and wellness. Dysbiosis is associated with increased levels of urea toxins which may accelerate kidney disease, so supplementing with #probiotics may be especially advantageous. One meta-analysis found that supplementation may protect the intestinal barrier by reducing levels of urea toxin called, p-cresyl sulfate, and increase levels of interleukin (IL)-6 (Jia et al., 2018), a signaling protein that has been shown to promote the growth and regeneration of cells lining the intestines (Xue & Falcon, 2019).
Andrographis paniculata is a medicinal herb that contains andrographolide and arabinogalactan proteins. Animals studies suggest that these components may reduce both liver and kidney toxicity from alcohol, which suggests they protect the kidneys from harm (Singha et al., 2007). Another herb for kidney health is #moringa, which is commonly referred to as a superfood. This one is native to India, and it has been found to decrease blood levels of urea and creatinine, which are waste products. Studies have found that moringa leaf extract can protect against kidney toxicity caused by acetaminophen (Tylenol) (Karthivashan et al., 2016).
N-acethylcysteine (NAC) is an amino acid and frequent supplement used for liver and kidney disease. It is a precursor to #glutathione, a major antioxidant in the body that targets oxygen radicals. A four-month trial assessed the effects of #NAC supplementation in individuals undergoing hemodialysis and found that NAC may reduce oxidative stress and improve outcomes of uremic anemia (Hsu et al., 2010 & Mokhtari et al., 2017).
Resveratrol, another antioxidant found in berries, grapes, and peanuts, is cardioprotective, as well as kidney-protective. In animal studies, resveratrol has been shown to protect against various kidney concerns, including drug-induced injury, diabetic #neuropathy, and hyperuricemic injury. The thought is that #resveratrol targets the inflammation and oxidative stress associated with chronic kidney disease progression, so another to consider with your primary care provider (Saldanha et al, 2013).
Finally, vitamin C can't be forgotten as it too has incredible antioxidant properties which are vital for protecting the kidneys, lungs, and other organs against inflammation and oxidative stress. It also helps stabilize the body's metabolism, creating a healthy internal environment (Feng et al., 2021).
Integrative Care with Chronic Kidney Disease
Functional and #integrative care is my passion. Digging into the underlying cause is the most effect mode of healing, but when developing a plan of action, there are typically a plethora of approaches. Many prefer or like to integrate a variety of approaches, including more natural options such as botanical medicine. Working with a functional and integrative practitioner can help you incorporate approaches that offer more than simply symptom management. More often their goal is to improv function. If you would like a consultation with Dr. Lane, call 765-335-2171 or email us Doctor@EdenFamilyPractice.com.
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