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Disease Fact SheetsMAAT 125Vicky ChauApril 17, 2017Polycystic Kidney Disease Fact SheetDisease/condition: Polycystic kidney disease, or PKD, is an inherited disorder that causes a mass development of noncancerous sac-like pockets of tissue that contains fluid within the kidneys. These sac-like pockets are called cysts, ranging in different sizes and grows bigger as it’s filled with more fluid. Commonly found in the kidneys, but can affect other parts of the body such as the liver.Etiology: PKD is a disorder that affects the urinary system and is a result of abnormal genes or, in rare cases, a genetic mutation. There are two types of PKD, autosomal dominant polycystic kidney disease (ADPKD), which is 90 percent of people who have PKD. Autosomal dominant meaning that this disease is passed down from one of the parents who has the disease. The other type is autosomal recessive polycystic kidney disease (ARPKD), where the parents both have abnormal genes that passes on this form of disease to their child. If both parents carry a gene for this disease then there’s a 25 percent chance of their child developing PKD. Signs: High blood pressure, blood in urine, kidney stones, kidney damage, kidney infections, and urinary tract infections.Symptoms: Back pain, side pain, headache, tenderness in abdomen, fatigue, and frequent urination.Diagnostic Tests: Imaging exams are used to identify factors such as sizes of the cysts, number of cysts present, and amount of healthy kidney tissue. These exams include US exam that translate sound waves into images, CT scan that uses a device to project x-ray beams through the body, and MRI scan that uses magnetic fields and radio waves to generate images. Treatments: There is no cure for this disease, but treatments can help with relieving symptoms and lower complications. Angiotensin-converting enzyme inhibitors are used to control high blood pressure, antibiotics to treat infections, over-the-counter medications with acetaminophen can relieve pain, blood in urine can be helped with dilution of the urine by consuming lots of water which will thin out the urine to prevent any clots forming in the urinary tract. In rare cases of severe pain, it will be a possibility that surgery will be needed to remove the cysts if it is causing pressure and pain. Prognosis: Keeping blood pressure under control, eating low-salt diet, and exercising regularly will help maintain healthy kidneys and prevent complications from the disease. Reference: Diseases & Conditions-Polycystic kidney disease. (2014). Mayo Clinic. Retrieved 17 April 2017, from Sclerosis Fact SheetDisease/condition: Multiple sclerosis, or MS, is a disease that affects the brain and spinal cord that causes damages to the nerves. Certain risk factors may contribute to the development of the disease, factors like genetics and environment include age, sex, family history, climate, certain autoimmune diseases, and smoking.Etiology: MS causes the flow of communication of information within the brain to be disrupted, which is a result from when the coating fatty material that insulates and protects the nerves of the brain and spinal cord is attacked. This disease is considered an autoimmune disease in which the body’s immune system attacks its own tissues causing function problems in the central nervous system, the source and reason for how this disease develops is unknown. Signs: Slurred speech, tremors, difficulty walking, lack of coordination, and involuntary eye movements.Symptoms: Numbness, fatigue, dizziness, double or blurry vision, loss of vision, pain in eye movements, muscle spasms, urinary problems, and electric-shock sensation down the spine during neck movements. Diagnostic Tests: A differential diagnosis is when doctors rule out other conditions that have the same signs and symptoms, along with reviewing medical history. A spinal tap, or lumbar puncture, involves collecting a sample of cerebrospinal fluid for analysis, MRI scan can detect damages in the brain and spinal cord, and evoked potential tests are used to measure the nervous system’s response to stimulation of specific types of sensory nerve pathways such as visual(light), auditory(sound), and somatosensory(touch). Treatments: There is no cure, treatments can only slow down the disease so the body can recover from the attacks. Treatments include muscle relaxants, interferon drug injections, intravenous steroid treatment, plasma exchange, immunosuppressive medications, physical therapy, and occupational therapy. Prognosis: Those with MS have the same life expectancy as those that don’t. This disease is a life-long condition with no cure, but with the use of different treatments and seeking help from specialists can help manage the symptoms which can lead a normal life. Along with a healthy diet, exercise, and relaxation therapies, people can boost their mentality and bodies. Reference: Overview - Multiple Sclerosis. (2017). Mayo Clinic. Retrieved 17 April 2017, from Gravis Fact SheetDisease/condition: Myasthenia gravis, or MG, is a chronic disorder that causes the skeletal muscles to become weak and worsens as activity of the voluntary muscles increases. The name myasthenia gravis comes from Latin and Greek origin, in translation it means “grave muscle weakness.” MG is a rare condition that affects between 14 and 20 out of every 100,000 people and more common in women under ages 40 and men over 60 years of age. Etiology: This condition affects the muscular system and is caused by interference in the process of transmitting messages from the nerves to the neurotransmitter receptors responsible for generating muscle contractions. Acetylcholine are chemical messengers that are sent to the neuromuscular junction and binds to receptor sites to contract muscles. This condition comes from the body’s antibodies blocking or destroying the acetylcholine receptors then causes only a few signals to be received, thus affecting the movements of the voluntary skeletal muscles. Signs: Drooping eyelids, impaired speech, facial paralysis, and difficult mobility.Symptoms: Shortness of breath, difficulty chewing and swallowing, blurred or double vision, and weakness in limbs.Diagnostic Tests: Tests performed are imaging scans like CT and MRI and a pulmonary function test. A doctor will review the symptoms and medical history, then a physical examination will be performed. A neurological exam checks reflexes, muscle strength and tone, eye movements, touch and sight senses, and motor functions such as balance and coordination. Single fiber electromyography is used to track electrical activity between the nerves and muscles and a repetitive nerve stimulation test measures muscle response to stimulated nerves which can determine whether muscle movements are weakened due to impaired transmissions. Treatments: This condition does not have a cure and can only be controlled by managing the symptoms through treatments. Treatments include medications, therapies, thymectomy to remove the thymus gland, plasmapheresis to filter and remove harmful antibodies from blood, and intravenous immune globulin which is infusing antibodies from donated blood. Prognosis: With proper treatments, symptoms can improve and people can go on living their normal lives. There is even possibility of remission for either a short period or permanently with no symptoms, in which case treatments can stop. Long-term remission occurs in about 50 percent of people who have had a thymectomy.Reference: Herndon, J. (2016). Myasthenia Gravis. Healthline. Retrieved 17 April 2017, from Acromegaly Fact SheetDisease/condition: A hormonal disorder that occurs when the pituitary gland produces too much growth hormone. Growth hormone promotes growth in bones, muscles, organs, and other body tissues, too much production of growth hormone will change a person physically with increased size of their bones in the hands, feet, and face. Children who have this disorder can grow to abnormal heights.Etiology: The cause of excessive production of growth hormone from the pituitary gland comes from noncancerous tumors. This condition affects the endocrine system, which is the system that regulates growth and development. Most common tumors are of the pituitary gland, but other parts of the body such as the lungs, pancreas, or adrenal glands can develop tumors as well. Signs: Skin tags, enlargement of the lips, nose, and tongue, deep voice, body odor, swollen hands and feet, excessive sweating, oily skin, and spaced out teeth.Symptoms: Painful joints, fatigue, headache, impaired vision, muscle weakness, sleep apnea, erectile dysfunction in men, and irregular menstrual cycle in women.Diagnostic Tests: A growth hormone uses blood to measure the growth hormone levels, but isn’t always accurate. A more reliable test is the glucose tolerance test because healthy people who consumed glucose their GH levels will be lowered and those that have acromegaly their GH levels will stay high. Insulin-like growth factor 1 test, or IGF-1, can measure the abnormal growth of GH, as the GH levels go up then IGF-1 levels go up. X-rays, MRI, and CT scans may also be ordered to check for excess bone growth and to find the tumor. Treatments: First option would be transsphenoidal surgery, which removes the pituitary tumor and lowers the GH levels. An alternative option is to use medications, if surgery wasn’t possible, such as somatostatin analogs, GH receptor antagonists, and dopamine agonists. Radiation therapy may be used to destroy tumors left after surgery or to aid medications that aren’t responding. Prognosis: The outlook is positive if the condition is discovered early and treated properly. Surgery is usually successful in removing the pituitary tumors. After treatment, routine visits to the doctor is recommended to make sure the pituitary gland is functioning normally and the tumor does not come back.Reference: Acromegaly. (2016). Healthline. Retrieved 17 April 2017, from . (2012). National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved 17 April 2017, from Hepatitis C Fact SheetDisease/condition: Hepatitis C is a virus contracted through the bloodstream or passed down from birth that attacks the liver causing infection and inflammation. Hepatitis C is the most leading risk for liver cancer and liver failure, which is the most common reason for liver transplants. Leaving the disease untreated over time can cause it to become chronic and cause severe damages such as scarring to the liver called cirrhosis. Etiology: The main cause for Hepatitis C is unclear, but researchers found that this virus belongs to a virus family called Flaviviridae, which is the same virus family as yellow fever and dengue fever. This virus mainly affects the immune system, but it also also affects the other body systems as well. Signs: Jaundice (yellowing skin and eyes), dark colored urine, swelling in the legs, and presence of spider-like blood vessels.Symptoms: Fatigue, loss of appetite, weight loss, abdominal pain, bloating, muscle or joint pain, nausea, itchy skin, mood swings, confusion, slurred speech, and depression.Diagnostic Tests: Liver function test screens for possible infection by measuring liver enzymes, high levels of liver enzymes that could indicate inflammation or cell damages in the liver. Antibody test, or anti-HCV, tests the blood for antibodies of the hepatitis c virus. Negative results for people exposed to HCV in the past 6 months will need to be tested again. Positive test results may indicate current or past infection, so additional tests are required to confirm diagnosis. HCV RNA are quantitative tests that measures amount of Hepatitis C virus in the blood which confirms whether the person is infected. Treatments: Treatments given depends on the stage of the infection and severity of liver damages. Antiviral medications are used in combinations for treatment, which will prevent the virus from multiplying and eventually it will clear from the body. For people who have cirrhosis or at the point of liver failure due to chronic hep C would need a liver transplant.Prognosis: The life expectancy depends on the treatments’ effectiveness and severity of damage, some people’s immune system overcomes it on its own. The longer it took to discover and left untreated, the less effective treatments will be. Leaving the disease untreated could progress into liver failure or cancer and require a liver transplant. With liver transplants, things to consider are waiting lists, ineligibility for transplant, transplant rejection, and health conditions that prevent getting a transplant. Once the virus is gone, most likely it won’t come back but there’s possible re-infection, washing your hands often and avoid sharing needles are good ways to prevent infection.References: Kahn, A. (2016). What Do You Want to Know About Hepatitis C?. Healthline. Retrieved 4 April 2017, from ................
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