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What causes Polycystic Kidney Disease
What causes Polycystic Kidney Disease
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“Polycystic Kidney Disease is a genetic disorder in which abnormal cysts develop and grow in the kidneys. Cystic disorders can express themselves at any point, infancy, childhood, or adulthood.”“PKD does not cause any signs or symptoms until cysts are half an inch or larger. Common symptoms are pain in the back and sides - between the ribs and hips - and headaches. The pain can be temporary or persistent, mild or severe. Hematuria - blood in the urine - may also be a sign of autosomal dominant PKD.”“Cysts grow in a person’s kidney, which can lead to kidney failure. A healthy kidney filters out toxins in the blood and eliminates them from the body in the form of urine. In autosomal dominant polycystic kidney disease (ADPKD), there are at least …show more content…
two genes, which, if mutated, can cause cysts to grow in the kidneys. For a person who inherited a mutation in PKD1 or PKD2, every kidney cell has that mutation. Over the years, some fraction of the kidney cells may acquire a mutation in the other copy of the gene.” “Adult onset PKD is transmitted from parents to their offspring as a non-sex linked dominant trait.
When each parent produces, only one of their two PKD1 genes goes into each cell. The child will inherit one copy of the PKD gene from the father and one from the mother. ADPKD can also occur as the result of a spontaneous mutation. If neither parent had the disease, but a PKD gene was somehow mutated, you can still have the disease. When each parent produces, only one of their two PKD genes goes into each cell.”“There is currently no cure for polycystic kidney disease. In the early stages, a patient can be treated for high blood pressure, pain, and any other secondary symptoms. If the disease progresses to the point of kidney failure dialysis and kidney transplantation provide replacement therapy, but does not cure PKD.” “People in their adulthood are the ones usually affected. Cysts in the kidney are often present from birth or childhood. ARPKD is much rarer and is often lethal early in life. It is among the most common of all inherited diseases of humans.”“The disease gets worse slowly. Eventually it leads to end-stage kidney
failure. It is also associated with liver disease, including infection of liver cysts. Medical treatment may relieve symptoms for many years. People with PKD who don’t have other diseases may be good candidates for a kidney transplant.”
Many people never find out that they have had stones in their kidneys. Some stones are small enough to flow through the kidney without ever causing any pain. These are called "silent stones"(Ford-Martin & Odle, 2005) Kidney stones cause problems when they get in the way of the normal flow of urine. They can block the flow through the ureter that carries urine from the kidney to the bladder. “The kidney is not accustomed to experiencing any pressure. When pressure builds from backed-up urine, it causes hydronephrosis” (Ford-Martin & Odle, 2005). If the kidney is subjected to this pressure for a while, there may be damage to the fragile kidney structures. When the kidney stone is lodged further down the ureter, the backed-up urine may also cause the ureter to swell. Because the ureter is a musc...
It only takes one abnormal gene for a child to have the disease for the rest of his or her life. The disease is a reoccurring cycle, and this rare blood disorder is rare to the minds that do not have the disease, and to the minds that have not studied the disease. Although there is no definite cure, a splenectomy will help maintain the disease. The million dollar question is “What is hereditary spherocytosis and is there a cure?” Hereditary spherocytosis is a disorder in the membrane of a red blood cell that causes the red blood cell to be shaped like spheres, instead of flat discs (Wint Carmella).
TSEs or more commonly prion diseases are a group of invariably fatal neurodegenerative diseases that occur in humans and animals . This disease is caused by a protease –resistant protein (PrPsc) after misfolding of a host-encoded prion protein (PrP). TSEs can exist as genetic, infectious or sporadic forms. The diseases are characterized by dementia, ataxia and neuropathlogically due to loss of specific neurons in the brain. Other clinical features include persistent painful stimuli, dystonia, visual or cerebellar problems and gliosis (1).
Cystic Fibrosis is an inherited disease characterized by the buildup of thick, sticky mucous that can cause severe damage to the body’s organs. Mucous is usually a slippery substance that lubricates and protects the linings of the airway, digestive system, reproductive system and other organs and tissue. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight-loss. Due to the abnormally thick mucous it can can clog airways, leading to breathing problems and bacterial infections in the lungs. Bacterial infections can lead to coughing, wheezing and inflammation. Overtime these infections can lead to permanent damage in the lungs including the formation of scar tissue, known as fibrosis and cysts in the lungs (Genetics Home Reference, 2013). The symptoms and signs of this disease vary but mostly include progressive damage to the respiratory system and chronic digestive system problems. An individuals’ lungs who are infected by cystic fibrosis have bacteria from an early stage. This bacteria can spread to the small airways, leading to the formation of bacterial micro-environments known as biofilms. Biofilms are difficult for antibodies to penetrate, therefore the bacteria repeatedly damage the lung and gradually remodel the airways, resulting in difficultly to eradicate the infection (Welsh, 1995). Cystic fibrosis patients may even have their airways chronically colonized be filamentous fungi and/or yeasts. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm are blocked by mucous and do not develop properly. As well, women may experience complications in pregnancy. Either the c...
Envision a life consumed by grayness and misfortune, slowly weakening the body from the inside with no proof of existence other than symptoms of a common cold. Dwindling away as skin begins to cling to bone, this monster, formally addressed as the Poliomyelitis (Polio) disease, finds its way to the nerves of the body as well as the grey areas of the spinal cord, leaving its host with dreadful affects throughout the body.Since its discovery in 1905, Polio has caused several epidemics throughout the years leaving many permanently paralyzed or even dead. Thankfully, scientists created the polio vaccination which lead to the nearly complete eradication of this disease. However, In order to ensure this disease does not spread as it once did before, people must come to understand Polio’s etiology, history and modern day epidemiology, as well as its proper response to treatment.
While cystic fibrosis (CF) is not a new disease, there is still a lot to learn about it. In 1938 a pathologist, Dr Dorothy Andersen, provided the first clear description of cystic fibrosis. Before this time there had been reports of people that had the symptoms of someone with CF. During the seventeenth century children with the symptoms of CF were thought to be bewitched and their life expectancy was very short. Dr Dorothy Andersen gave this disease its name because cystic fibrosis refers to the scarring that is found on the pancreas. People with CF also have associated diseases like salt-loss syndrome, obstructive azoospermia, and gastrointestinal abnormalities. CF is inherited from one’s parents, making it a genetic disease. CF is caused by mutations in a certain gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This gene was first discovered in 1989 on chromosome pair 7. Cystic fibrosis is a recessive disease meaning both parents have to be a carrier. Whenever two CF carriers have a child together, there’s a 1 in 4 chance that their child will inherit the CF mutation. Although CF produces coughing it cannot be transmitted any other way than hereditary.
Prion Disease is a lethal thing that does not have a cure. Many people are dying from this and researchers are nowhere near close to finding anything to stop the disease. By making more people aware of this, it can make some that are interested in medicine and science have an drive to help find a cure. Prion Disease is a complex thing to understand completely, especially when there is no prior knowledge about this topic. So explaining the different types and other general information about the disease is important. Some more topics to discuss are cures and symptoms. Some aren’t aware that they have Prion Disease, which can lead to it spreading, and the fact that there isn’t a cure is another problem. Since Prion Disease isn’t a common topic that many hear about daily or even know about. By talking about basic information about Prion Disease and how there isn’t a cure and the symptoms that come with it, people can start to understand how important this really is because many people are dying and by informing society finding a cure with fresh eyes could be done a lot sooner.
An estimated 242,251 Canadians, and 150 million people worldwide are chronically infected with the hepatitis C virus, and more than 350 000 people die every year from hepatitis C-related liver diseases.1 Hepatitis C can lead to other serious diseases, such as liver failure, death, etc. But without any vaccines available to prevent the contraction of the disease, it may be hard to avoid. Due to disease generally being asymptomatic many people are unaware that they have it, further spreading the disease because of a lack of prevention mechanisms. Hepatitis C when developed chronically can cause serious affects on the liver, which may even lead to death. With hepatitis C being such a serious disease, it is important that more people be tested for it so they can start treatment in the early stages of the disease, as well as be aware and informed, before it becomes a chronic infection leading to serious complications.
Today there are many infectious diseases around the world. An infectious disease is defined as an infection which can be caused by the entrance, development and manipulation of microorganisms in the body. Infections are classified as emerging and re-emerging. An emerging disease is a disease that has appeared in a population for the first time, or that it may have happened previously but is rapidly increasing in incident or geographic range. Whereas a re-emerging disease is a disease that has been present at a location in the past and was considered eradicated or controlled. Some emerging and re-emerging disease present today and in the past are, HIV and Aids, Ebola, Hendra Virus as emerging diseases and Malaria, Tuberculosis, and Cholera as re-emerging diseases. In this report the re-emerging disease ‘Poliomyelitis’ will be thoroughly investigated and from reliable research, the effectiveness of the management to prevent this disease in the world will be evaluated. Poliomyelitis, often called ‘polio’ or ‘infantile paralysis’ is an infectious disease caused by a virus. This dangerous infectious disease has been eradicated around the world except for three countries, Nigeria, Pakistan and Afghanistan.
Today, many Americans face the struggle of the daily hustle and bustle, and at times can experience this pressure to rush even in their medical appointments. Conversely, the introduction of “patient-centered care” has been pushed immensely, to ensure that patients and families feel they get the medical attention they are seeking and paying for. Unlike years past, patient centered care places the focus on the patient, as opposed to the physician.1 The Institute of Medicine (IOM) separates patient centered care into eight dimensions, including respect, emotional support, coordination of care, involvement of the family, physical comfort, continuity and transition and access to care.2
I noticed quite a few years ago that suddenly everyone in early recovery from addiction to drugs and alcohol was also being diagnosed as bipolar; not just a few people, almost everyone was labeled bipolar. Most of these individuals were also taking medications that their doctor had prescribed to deal with their mania and depression. Suddenly everyone had a “dual diagnosis,” these seemed like magical words for managed-care approvals.
One of the most common mysteries in the world is the development of autoimmune diseases. An autoimmune disease is when the immune system, which usually keeps your body healthy thinks that your healthy cells are antigens and attacks them. This is irony right? It is against properties of evolution for an immune system to attack itself causing sickness and possibly death if untreated. There are about 80 different types of autoimmune diseases, which usually have periods of little to no symptoms and worsening symptoms. What particularly creates confusion in the world is the autoimmune disease, inflammatory bowel disease, which affects almost about five million people worldwide.
Urinary Tract Infection, also known as UTI, occurs in two common locations, the bladder and kidneys. The kidneys are important organs that aid in filtering out waste products from blood and maintaining water distribution throughout the body. The waste products are filtered out via bladder, which is the reason of the bladder being the second site for the infection. A normal human being has two kidneys, one on left and right side, a bean shaped organ, and is located at the back of the abdomen. “Each kidney is about 11.5 cm long, 5-7.5 cm broad, 5 cm thick, and weight about 150 grams” (HealthInfoNet, Paragraph 2). Furthermore, a bacterium named Escherichia coli lives in both the kidneys and the GI tract. E. coli is part of the human body and produces
The patient that came into the hospital on your job rotation was a chronic smoker, meaning he had smoked cigarettes for a long period of time now and it has became to be really hard for him stop smoking. The patient was suffering from Chronic Hypertension or also known as high blood pressure. This is a symptom in the body when the blood pressure in your system flows usually higher then normal in a long period of time. Adults have chronic hypertension when they’re blood pressure is higher then 139 millimeters of mercury. In high blood pressure the heart is the central pump to all other parts of the body, every time it pumps, a large volume of blood is released to all parts of the body. The patient my have different types of chronic hyperextension, Essential and Secondary. Essential is the most common and secondary results from other medical conditions.
Suffering from a unique anomaly, gave me not only some difficulties in life, but sparked my interest in a world of opportunity, cures, and advanced technology. Crossed fused ectopia is a condition where both my kidneys are fused together at the midline instead of the sides. Therefore, contact sports, such as horseback riding and soccer, that put my kidneys at risk of harm was forbidden. Complication for this kidney disease such as a UTI, infections, and hydronephrosis are increased by 50%. This congenital disease made me wonder if it was hereditary or acquired. Therefore, when I saw a nephrologist, the doctor kept questioning my parents to find more about some family diseases that can give insight into this condition. Both of my parents’ relatives