Polycystic Kidney Disease - Research Paper Example

? Polycystic kidney disease is a genetic disorder that occurs in two main ways: as autosomal dominant polycystic kidney disease and as autosomal recessive polycystic kidney disease (NIDDK ). In both cases, the disease causes multiple cysts to grow on the kidneys, which can cause further health complications involving other bodily systems (NIDDK). The liver, brain, and heart can also be affected by the disease, and because of the disease’s progressive nature, it often causes kidney failure (Masoumi et al.). The characteristic symptom of the disorder is the presence of cyst clusters that are noncancerous and filled with fluid (Mayo). Cysts may also form in other organs (Mayo). Although the disease can be very serious, it is possible for a person to have the disease for years without being aware of it (Mayo). Since the disease is genetic and runs in families, family members might be more likely to watch for symptoms and identify the cause of the symptoms than they would be for a disease that was not genetic in nature. A third form of the disease, acquired cystic kidney disease, has no genetic implication and is usually associated with kidney failure (NKF). The symptoms of polycystic kidney disease include high blood pressure, pain in the back or side, headache, swollen stomach area, bloody urine, frequent urination, kidney stones, kidney failure, urinary tract infections, and kidney infections (Mayo). While these symptoms are generally evident in both forms of the disease, there are some characteristics of the autosomal dominant form of polycystic kidney disease that are different from the autosomal recessive form of the disease. Autosomal dominant polycystic kidney disease is a relatively common hereditary disease, and it eventually causes kidney failure in about half of the people who have it (Masoumi et al.). The symptoms of this form of the disease are most likely to surface at around thirty to forty years of age (Mayo). About ninety percent of polycystic kidney disease cases are of the autosomal dominant form (Mayo). A child can inherit this disorder even if only one parent has the disease, and a child with one parent who carries the disease has a fifty percent chance of having the disease (Mayo). On the other hand, autosomal recessive polycystic kidney disease is relatively rare (NIDDK). Unlike the disease’s autosomal dominant form, symptoms of the recessive form often surface not long after a child is born (Mayo). Less frequently, they don’t show up until childhood or adolescence (Mayo). Unfortunately, the symptoms can even be severe enough to cause death within hours of the infant’s birth (NIDDK). The only way a child can have this form of the disease is for both parents to be the carriers of abnormal genes (Mayo). When both parents carry this abnormal gene, each child they have has a twenty-five percent chance of having the disease (Mayo). The first symptom reported by most individuals with autosomal dominant polycystic kidney disease is back pain, which varies in intensity from person to person (NIDDK). Other symptoms of autosomal dominant polycystic kidney disease include urinary tract infections, bloody urine, cysts in the liver and pancreas, high blood pressure, kidney stones, and aneurysms in the brain (NIDDK). Another problem associated with this form of the disease is diverticulosis, a problem with the structure of the colon walls in which they become weak (NIDDK). The symptoms of autosomal recessive polycystic kidney disease include many of the same for the autosomal dominant form of the disease. Elevated blood pressure, urinary tract infections and increased urinary frequency are all common (NIDDK). Due to liver and spleen involvement, varicose veins and hemorrhoids are also likely in this form of the disease (NIDDK). Children with autosomal recessive polycystic kidney disease are smaller than other children due to the impaired functioning of their kidneys (NIDDK). These children will also have lower blood cell counts than the normal range (NIDDK). Another problem seen in this disease relates to the valves of the heart. About one in every four people with polycystic kidney disease also has problems with a heart valve and may experience chest pain because of this (NKF). Since clusters of cysts are the central characteristic of this disease, it is not surprising that the cysts can be numerous and very large. With the formation of cysts occurring on the kidneys, the kidneys themselves grow from their normal size of under a half pound to as many as twenty to thirty pounds (Mayo). What eventually occurs in the course of the disease is that the kidneys are no longer able to remove wastes from the body and keep fluid levels balanced (Mayo). The bigger the cysts get, the more the normal kidney areas are harmed and implicated in the disease process, which encourages further difficulties (Mayo). Eventually, the kidneys can’t stop wastes from becoming dangerous and a toxic condition called uremia sets in (Mayo). Health complications that often come along with polycystic kidney disease are related to the ways impaired kidney function can affect the body’s other systems. High blood pressure becomes a problem for many people, but can be kept under control by lifestyle changes and medication (Mayo). Kidney failure is a very serious problem associated with both the autosomal dominant and autosomal recessive forms of polycystic kidney disease, and almost half of the people who have this disease experience kidney failure by the time they are sixty years old (Mayo). If a person also has problems with high blood pressure, the risk for kidney failure increases (Mayo). Once the kidneys fail, a person has to have kidney dialysis or a transplant (Mayo). While this disease doesn’t seem to affect a huge number of people, it definitely has a profound impact on those who do have it. Polycystic kidney disease affects about 600,000 Americans (NIDDK). The disease is the fourth highest cause of kidney failure, and is responsible for about 5 percent of cases (NKF). The disease is found in males and females with approximately equal frequency, and is found in all races (NKF). Autosomal dominant polycystic kidney disease is the number one genetic cause of renal failure in the adult population and is the cause behind ten percent of dialysis patients’ need for the therapy (Phillips). It is also the most common hereditary disease of potentially life-threatening severity (Masoumi et al.). The diagnosis of polycystic kidney disease can be achieved using one of several methods. A radiologic exam could be used to look at the organ, such as an ultrasound (Mayo). The ultrasound shows the technician images of the kidneys and can detect the presence of cyst clusters (Mayo). This is the most common type of diagnostic imaging used for this purpose (NIDDK). A computerized tomography scan, or CT, is another radiologic test that could be used to create cross sectioned views of the kidneys for examination by a radiologist or physician (Mayo). Another imaging test that could be prescribed is the magnetic resonance imaging, or MRI, which would also result in cross sectioned views of the kidneys (Mayo). In the early stages of autosomal dominant polycystic kidney disease, imaging tests may be the only ones that would reveal the disease, since blood and urine tests may not reveal any abnormalities (NIDDK). Furthermore, there is no single blood test that can be used to diagnose this disease (NKF). Genetic testing can be used to examine certain gene mutations in the autosomal dominant form of the disease, and this can be beneficial for encouraging healthy lifestyle changes and the introduction of preventive measures (NIDDK). The treatments for polycystic kidney disease are directed at both the disease’s direct effects on the body and at the conditions that commonly come along with the disorder. There is no cure for the disease itself, but its symptoms can be treated (NIDDK). Kidney pain, which is felt in the back or the side, can be treated with over the counter medications (NIDDK). In the event of infection being the source of the pain, the infection would need to be treated with antibiotics, and the urinary tract infections that occur with the disease would be treated with antibiotics as well (NIDDK). High blood pressure would be controlled with lifestyle and diet changes, and if severe enough, medications (NIDDK). When the disease progresses to the degree of kidney failure, the treatment would be kidney dialysis, in which the blood is filtered and cleaned of toxins before being returned to the body (NIDDK). In this case, the dialysis machine is being used to perform the same functions that a healthy kidney could perform on its own (NIDDK). There are also surgical interventions for severe polycystic kidney disease. A cyst on the kidney causing severe pain or problems for other organs may require draining (Mayo). The same could be done for a related cyst on the liver (Mayo). The long-term outlook for people with polycystic kidney disease shows a fifty percent chance of the development of kidney failure by the age of sixty, with an increase to a sixty percent chance by the age of seventy (Masoumi et al.). This means that more than half of the people that have this disease will need dialysis and transplants in order to live (NIDDK). A person who has this disease can receive a healthy kidney from a healthy donor through transplantation, and the kidney will not grow cysts on it (NIDDK). Some individuals with very serious and advanced cases of autosomal recessive polycystic kidney disease will require the transplantation of both liver and kidney, due to the presence of extreme liver disease (NIDDK). For individuals with the non-genetic, acquired form of the disease, transplantation may be the ultimate necessity if dialysis has already been used (Medical). Unfortunately, a large proportion of people who have any of the forms of polycystic kidney disease will eventually require both dialysis and transplantation, regardless of their work at incorporating healthy lifestyle changes (NKF). Works Cited Masoumi, Amirali, Berenice Reed-Gitomer, Catherine Kelleher and Robert W. Schrier. “Potential Pharmacological Interventions in Polycystic Kidney Disease.” Drugs 67.17(2007): 2495-2510. Print. Phillips, Angela. “Autosomal Dominant Polycystic Kidney Disease: A Case Study.” Nephrology Nursing Journal 36.1(2009): 41-47. Print. The Mayo Clinic. “Polycystic Kidney Disease.” Mayo Clinic. The Mayo Clinic, n.d. Web. 30 Apr. 2012. The National Kidney Foundation (NKF). “Polycystic Kidney Disease.” The National Kidney Foundation. National Kidney Foundation, n.d. Web. 30 Apr. 2012. The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). “Polycystic Kidney Disease.” The National Institute of Diabetes and Digestive and Kidney Diseases. National Kidney and Urologic Diseases Information Clearinghouse, n.d. Web. 30 Apr. 2012. Read More