Polycystic Kidney Disease (PKD)

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.

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.

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.

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

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

Polycystic kidney disease (PKD) is a severe form of hereditary disease which results from a monogenic disorder. The disease causes enlargement alongside with functional impairment. It results in clusters of cysts mainly within the kidneys. Cysts are noncancerous round sacs consisting of water like fluid which vary in size depending on its accumulating growth (Mayo Clinic Staff, 2014). This cystic disease consists of two forms, an autosomal dominant PKD (ADPKD) and an autosomal recessive PKD (ARPKD). The purpose of this research paper is to increase chances of healthy babies born to couples whom both transmit a mutation of PKHD1 gene, wanting to have a child unaffected with autosomal recessive polycystic kidney disease (ARPKD). A recessive mutation/disease is when the gene is inherited from both parents. This disease is of major interest due to the amount of individuals affected widely. Over 12.5 million individuals have PKD, with approximately 30% of affected children dying within their first year of life; making it a major source of morbidity and mortality concern (Miyazaki et al., 2015). ADPKD makes up to 96-98% of all cases, and ARPKD up to 2-5%. Although ADPKD is more harmful, the main focal point of this research paper is on autosomal recessive polycystic kidney disease (ARPKD). Due to the abnormalities in the biliary plates it leads to congenital hepatic fibrosis in infants. Congenital hepatic fibrosis is the disease of the liver which is usually present from birth.

Specific blood tests also can be an accurate diagnostic tool. A kidney biopsy can also provide accurate results. Chest x-ray, ultrasound, and electrocardiogram can be effectively used (Stevens, 2009).

I’m sorry to inform you that your prospective baby boy has Autosomal Recessive Polycystic Kidney Disease (ARPKD). ARPKD is inherited recessively so you are both most likely carriers of the disease. There is no good way to say this but that means you have a 50% chance of having a child with ARPKD. From our last ultrasound we saw that his kidney was abnormally large for a fetus his age and we believe we’ve also located a cyst. ARPKD causes cysts to grow in your kidney. Cysts a sac that contains fluid and can interfere with the filtering of waste in the blood. The cysts cause the kidney is become abnormally large. Some of the symptoms for ARPKD are: liver scarring, trouble breathing, kidney failure, kidney stones, and high blood pressure. I’m

pain. The second stage is the chronic renal failure, which is accompanied by feelings of

There is no cure for polycystic kidney disease. Scientific research, in fact, failed to identify therapies that could be decisive. However your doctor may prescribe drugs or treatment to relieve certain symptoms. You have to treat hypertension with medications with ACE inhibitors or low-salt diet, the same way as kidney failure can be slowed with a lifestyle healthier, doing physical activity, and not smoking, eating fat-free foods.

Drug therapy consists of; Lasix, antihypertensives, antiemetics, H-2 blockers, erythropoietin, vitamins and electrolyte balancing agents (phosphate, calcium, V-D, Vit-B, and amino acids. Dialysis is mostly the patient’s only way of survival. Nutritional therapy is encouraging patients to avoid ↑Ca and ↑ protein foods. Fluid restriction is important since the kidneys have a difficult time excreting. If left untreated the patient would essentially die. The fluid overload combined with the toxicity of the left over wastes would shut down the body’s organs and death would occur.

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

Hemo dialysis is the filtration of blood to remove the toxins and it is done three times a week for three to four hours (Sullivan, 2010). This would require a person to have transportation to a dialysis clinic, and they would most likely not be able to hold a job. The second treatment option is peritoneal dialysis which consists of multiple exchanges of dialysate during the day which requires no equipment or by using a cycling machine at night (Sullivan, 2010). This can be done at persons home. If the cycling machine is used, a person is more likely to lead a normal life because the exchanges will be done at night when the person is sleeping. Both of these treatment options would require a surgery to obtain access to perform the dialysis. HD requires a vascular access. With vascular access there can become problems with infection and clotting (Sullivan, 2010). With PD a catheter is implanted into the lower abdomen. There is also the risk of infection and peritonitis with this treatment (Sullivan, 2010). PD may be more cost effective because the people on PD tend to be healthier and require less medications (Sullivan, 2013). The most ideal and cost effective treatment is transplantation (Sullivan, 2010). But even with transplantation there is the risk of rejection, so immunosuppressive medications must be taken for the duration of a person's life. According to the Organ procurement and transplantation network (2013), there are

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

When treating kidney disease it is important to control the underlying disease that is causing the damage to the kidneys. If diabetes is diagnosed keeping blood glucose levels under control and if high blood pressure is the cause keeping blood pressure under control with a reading of 130/80. Medication can be helpful such as ACE inhibitors, angiotensin II receptor blockers. Acute renal failure the main goal is to get the kidneys functioning again the physician may limit the amount of fluids taken in daily along with antibiotics to protect against any infections and diuretics to help with fluid removal. In some cases patient will require dialysis for a short period of time. Treating end-stage renal failure requires dialysis and or transplants.