A Study On Polycystic Kidney Disease ( Pkd )

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.

People with this inherited disorder are likely to develop several kinds of tumors, including, in some cases, renal cell carcinoma.

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.

Chronic kidney disease (CKD) is a common disorder and occurs in the elderly population. In younger patients, it

Polycystic Kidney Disease (PKD) is a fairly common genetic disorder of the kidneys. It affects approximately 1in 750 people. There are 2 types, the autosomal dominant (ADPKD) and the autosomal recessive (ARPKD). Autosomal dominant (ADPKD) is far more common of the two. The disease presents with lots of cysts on the kidneys and can not be cured. Medication can manage the symptoms. The symptoms include urinary tract infections, high blood pressure and even renal failure as it progresses. Serial ultrasound scans are usually performed to monitor the cysts and to screen family members.

This is a very serious form of PKD. It progresses rapidly and is often fatal in the first few months of life. This form is extremely rare. It occurs 1 in 25,000 people. The third form of PKD is called Acquired Cystic Kidney disease. This can happen in kidneys with long term damage and severe scarring, it often associated with kidney failure and dialysis. After 5 years about 90% of people develop ACKD. They usually seek help because they notice blood in the urine due to the cyst bleeding. Patients with PKD and progress to end stage renal disease may need the following procedures; hemodialysis, peritoneal dialysis, and renal transplantation. Polycystic kidney disease is multiple cyst that form on the kidney. There is NO cure for PKD. Everyone that has PKD does NOT develop kidney failure. By the age of 60 about 50% of people with PKD will have kidney failure and 60% by the age of 70. Treatment that is used, is used to reduce the symptoms. Your kidney filters waste and extra fluid from the blood to the urine. When cyst form on the kidney they are sacs filled with fluid. This can enlarge the kidney. The cyst is replacing the kidney structure reducing the function of the kidney, this

In ARPKD, the chances of passing down the disorder is 25% if both parents are carriers for the disorder. If only one parent has the disorder it is impossible for the child to have it because it is recessive. However the child can be a carrier and pass the mutated gene down to the next generation. If you are both homozygous for the trait then the chances that you will pass on the trait is 100%. If you and your spouse both don’t have the trait at all then the chances of passing down the trait is 0%. (Used a Punnet Square)

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

PKU is passed on in a “autosomal recessive” gene. This means that a person may have one of the genes for the disease but if they have the other dominant gene they will not be affected by the disease. In the diagram ‘P’ is the dominant gene and ‘p’ is the recessive gene. People who have one recessive gene and one dominant gene ‘Pp’ are called silent carriers. The person with ‘PP’ does not have any of the PKU gene. The person with ‘pp’ has PKU. Each time two carriers reproduce the chances the baby of having PKU is 25%. The chances of them being a silent carrier is 50%. One in every about fifty people in the general population are carriers. And the chances of that carrier’s mate is a carrier is about one in 2500. PKU occurs in about one of out every 10,00 babies born in the United States. Incidents of this disease occur equally in male and female babies.

Chronic kidney disease (CKD) is an irreversible condition that progresses causing kidney dysfunction and then to kidney failure. It is classified by a GFR of <60mL/min for longer than 3 months. There are five stages of CKD: Stage 1 has kidney damage but has a GFR ≥ 90. Stage 2 has mild damage and a GFR of 60-89. Stage 3 has moderate damage and a GFR of 30-59. Stage 4 has severe damage and a GFR of 15-29. Stage 5 is also known as end stage renal disease (ESRD), this is kidney failure with a GFR of ≤ 15 and theses patients are typically on dialysis or in need of an immediate transplant. The leading cause of CKD is diabetes. Hypertension is also a major cause. Since most DM patients have HTN,

Chronic Kidney Disease (CKD) is among the leading causes of mortality throughout the world, and its prevalence and the health care costs resulting from it are considerable and increasing. CKD commonly is silent and asymptomatic until its late stages. Accordingly, CKD is diagnosed prior to symptomatic stage of kidney failure, resulting in delays in proper interventions and the emergence of adverse consequences in the CKD patients

Nephrotoxins, acute interstitial nephritis, glomerular damage, and vascular damage also correlate with intrarenal acute renal failure (Singh, Levy, & Pusey, 2013). Postrenal acute renal failure is usually a result of a urinary tract obstruction that affects the kidneys bilaterally, which causes the intraluminal pressure upstream from the site of the obstruction to increase with a progressive decrease in the glomerular filtration rate (McCance, Huether, Brashers, & Rote, 2014). A pattern consisting of several hours of anuria with flank pain followed by polyuria is typically found in individuals with postrenal acute renal failure (McCance, Huether, Brashers, & Rote, 2014).

There is a pair of kidneys in the human body. They are situated towards the back of the body under the ribs, just at the level of the waist where one on either side of the body. Each kidney is composed of about one million units which are called nephrons and each nephron consists of two parts: a filter which is called the glomerulus and a tubule leading out from the nephron (Cameron 1999). According to Marshall and Bangert (2008) the kidneys have three major functions. Firstly, the kidneys are excretion of waste from plasma in the blood. The second function is that, they maintain of extracellular fluid volume and composition. Lastly, the kidneys have a role in hormone synthesis.

stages, symptoms and risk factors. It also examines the process of kidney transplantation to treat

Glomerulonephritis (GN), or the inflammation of glomeruli, is a leading cause of renal failure worldwide. Inflammation is characterized by vascular fragility, infiltration of leukocytes, and edema. Glomerular disease may manifest by three major syndromes: nephritic syndrome, nephrotic syndrome, and rapidly progressive glomerulonephritis (RPGN). Nephritic syndrome consists of sudden onset of hematuria, non-nephrotic range proteinuria (1.5 g/24 h), active sediment with red blood cell (RBC) casts or dysmorphic RBCs, acute renal failure, and hypertension. Nephrotic syndrome is characterized by heavy proteinuria (>3.5 g/24 h), edema, hypoalbuminemia, and hyperlipidemia. RPGN is characterized by active sediment (RBC casts and dysmorphic RBCs) and rapid development of acute renal failure usually over a period of weeks to months. Glomerulonephritis accounts for the majority of progressive renal disease in many parts of the world.