Polycystic Kidney Disorder Research Paper

Because there are different types of Waardenburg Syndrome, there are different types of inheritance patterns. Types I and III have an autosomal dominant inheritance pattern while types II and IV have an autosomal recessive inheritance pattern (Calendar 2013). The most common type of inheritance is the autosomal dominant inheritance (Type two 2013). An autosomal dominant inheritance pattern means that the mutated gene (EDNRB, EDN3, MITF, SNAI2, PAX3 and SOX10) is in each cell to cause Waardenburg Syndrome (Genetics 2013). In other words, only one parent has to have the copy of the altered gene in order for someone to have the syndrome. An autosomal recessive inheritance pattern means that the mutated gene has to come from both parents in order for a person to have Waardenburg Syndrome (Calendar 2013). Even though both parents carry the mutated genes, they don’t usually show any signs or symptoms of Waardenburg Syndrome.

* Hereditary papillary renal cell carcinoma. Having this inherited condition makes it more likely you'll develop one or more renal cell carcinomas.

Injury to the glomerulus and the tubules presents the onset of Intra-renal failure (Matzke, 2011). Some of the frequent causes for Intra-renal failure are glomerulonephritis; pyelonephritis; and tubular injury. Post-renal failure develops from things like ureteroliths, tumors, or anatomic impediments. Opposite of the acute form, the chronic form has a slow onset that has no early stage symptoms. It is important to know that following an acute episode a chronic renal episode often follows, and at this juncture the damage is irreversible. Glomerulonephritis and pyelonephritis combined, has been reported to be the forerunner in as much as half the cases from acute to chronic renal failure. Diabetes mellitus, renal vascular disease, such as atherosclerosis, hypertension, polycystic kidney disease, drug damage, and nephrolith are all examples of other causes of CKD (Pradeep, 2014). Biopsies of kidneys that suffered with CKD reveal smaller kidneys with scarring on the tubules.

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

Experts do not believe that Progera is hereditary. They say it is due to a rare gene change, which happens purely by chance. A non-twin sibling runs the same risk of having Progera as any other child from another family. In about 1 in every 100 cases of HGPS the syndrome is passed down to the next generation within the same family. The health care professional will possibly suspect Progeria if the signs and

There is no cure for CKD however it can be treated to relieve symptoms and give the patient a better life and to stop the condition becoming worse. During the early stages of CKD treatments can be given by your GP and mainly involve lifestyle changes such as becoming healthy, doing more exercise and taking certain medicines to assist in controlling blood pressure which then prevents further damage to the kidneys. However if the disease gets worse to the point where the kidneys stop working and functioning properly either a kidney transplant or dialysis which will be explained more in D2 more and it can impact a patient’s life a lot.

In 1950, there was a woman named Ruth Tucker, age 49, who had been suffering from a condition polycystic kidneys, which is where cysts form on the kidney and can cause them to shut down. One of Ruth’s kidneys were failing and the other was only working at 10% or less. A small company of Mary Hospital in June 17, 1950 and it had taken up to 40 doctors working at a time.The surgery was done without any kinds of pain medicine at the time and it had become successful for Ruth for 5 years until she had gotten a coronary occlusion and then later followed pneumonia.

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

The majority of people diagnosed with PKU have survived because it is not a life threatening condition and if its not treated it only leads to mental retardation at its worst.

These people with are born with a mutated copy of the PKD1 (85% of cases) or PKD2 (15% of cases) gene in each cell and this mutated gene is inherited from one of their affected parents in about 90% of the time. The other 10 percent of cases result from new mutations in people with no history of the disorder in their family. This is known as acquired polycystic kidney disease. The PKD1 gene is located on chromosome 16 and PKD2 gene is located on chromosome 4. Not only are there mutations in the DNA of these genes but there may also be large deletions that remove sometimes up to 10 genes.

PKU, also known as Phenylketonuria, is a genetic disorder that builds up the amino acid phenylalanine in the human body. This genetic disorder is known to be an example of the norm of reaction. The norm of reaction defines itself as a phenotype range that a person with a certain genotype reveals due to the differing of a certain environmental condition. Since this genetic mutation targeted the gene that encrypts the enzyme phenylalanine hydroxylase, it shows that if a person has one and/or two copies of that certain gene, that person would have the ability to eat and metabolize foods with phenylalanine. But, if a person has two copies of the mutated gene, they wouldn’t be able to eat nor metabolize foods with phenylalanine because if a person with PKU were to ingest foods with phenylalanine, the amino acid will accumulate in their body and become highly toxic to the person and the PKU homozygotes will lead to an assortment of detrimental symptoms, which currently occurs in about 1 in 10,000 babies.

hereditary disorder of Caucasians in the United States and is the most common cause of chronic

Chronic Kidney Disease (CKD) is a disease that is described as a loss of kidney function gradually over time. As kidney function decreases, the waste collection in the body’s blood becomes high and makes the individual feel sick. This disease can lead to other complications in the body such as anemia, poor nutritional health, high blood pressure, and nerve damage. These complications will begin to progress and show as CKD progresses to advanced stages. Early detection of this disease is essential when it comes to treatment. If CKD is diagnosed early enough the disease progression can be slowed down and managed. This disease will eventually lead to failure of the kidneys

common in patients who have had kidney transplantation.22 There are several causes that lead to

The prognosis of kidney failure is different from one person to another because the disease is so unpredictable, many times if caught early the disease can be reversed. Factors that play a role are the duration of the disease, complications, and recovery time. It is important to not let the disease go untreated.