Polycystic Kidney Syndrome Essay

Causes of kidney disease are wide-ranging in number; however diabetes, high blood pressure, inherited disease, and infection remain to be the contenders of cause (Davidson, 2011). Acute kidney disease can be identified by anuria and oedema. CKD is often called a “silent” killer, because instead of a sign, that would render immediate evidence, CKD only provides symptoms that many don’t know to correlate to renal issues. The symptoms may also increase at the latter stages of the

Polycystic kidney disorder is a genetic disorder. If one parent has the gene and passes it on to their child, this is called Dominant inheritance and the child has 50% chance of getting the disease. If both parents have the gene and pass it on to their child, this is called Recessive inheritance and the child has 25% chance of getting the disease. There are three types of PKD. Autosomal Dominant PKD is the first form. This form is passed from parent to child by dominant inheritance. Symptoms usually begin between the ages of 30 or 40 and can be earlier than that. Autosomal Dominant PKD is the most common form of PKD, 90% of PKD are this form. Infantile or Autosomal Recessive PKD is another form. This is passed from parent to child by recessive inheritance.

ADPKD is a genetically heterogenous disease with mutations in either PKD1 or PKD2 gene. PKD1 gene is located at chromosome 16p13.3 and PKD2 gene localizes to 4q21-22. In Western population about 85% have mutations in PKD1 gene and rest 15% has PKD2 mutations (23-25% in some populations). Patients with mutation in PKD1 gene have more severe phenotype and an early onset disease than those linked to PKD2. Though most of the ADPKD patients have positive family history, about 10% have de-novo mutations. Asymptomatic at-risk family members have 50% chance of inheriting the disease. Previously reported studies have suggested a possibility of a third locus in families that did not relate to mutations in PKD1 or PKD2 gene. However

CKD will cause the body to retain many excess fluids and waste that are normally filtered out to prevent internal harm throughout the body. With kidney disease there will be a rise in blood pressure due to the amount of extra fluid that is retained in the blood vessels. This fluid retention will cause the passageways to become narrow and make blood passage through the vessels increasingly difficult, in turn causing an increase in blood pressure. There will also be an increase in protein and blood found in the urine because it is not filtered out properly by the kidneys. Swelling will occur in the extremities and around the eyes because of the fluid retention as well. The longer the urine goes unfiltered the harder it may become to urinate due to pain or blockage or there may be more frequent night time urination (The National Kidney Foundation, 12).

PKD can affect other organ besides the kidney. Cysts can also appear in the liver, pancreas, spleen, ovaries, and large bowel. PKD can also affect the brain and heart. If it affects the brain, an aneurysm can occur; if it affects the

Approximately 1 in 10,000 caucasian babies are born with PKU (Baulny, 2007). In order for a person to inherit phenylketonuria, the mother and father both must have and pass down the defective gene. The parents of someone afflicted by this disease may have the gene but not have PKU. This parent would

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.

Polycystic Kidney Disease is an inherited disease that can also form from having existing kidney problems. It is when cysts develop in the kidney and interferes with the filtering of waste from the blood. The cyst in the kidney can lead to inflation and kidney failure, hence as to why it is the fourth leading cause to kidney failure. There are three cases of PKD, these includes Autosomal Dominant PKD (ADPKD), Autosomal Recessive PKD (ARPKD) and Acquired Cystic Kidney Disease (ACKD). These types of PKD are determined on how and when you get the disease or how prone to it you are.

Kidney disease has become more prevalent over the years, one in nine Americans has chronic kidney disease, resulting in the need for a kidney transplant. Kidney failure is caused by variety of factors resulting in damage of the nephrons, which are the most important functioning unit of the kidneys. Kidney failure can be broken down into three groups: acute, chronic, end-stage. Once kidney failure is irreversible, dialysis or transplantation is the only method of survival. To avoid a kidney transplant, one needs to be aware of the pre-disposing factors, signs and symptoms, available treatments, and proper diet.

Polycystic kidney disease, also known as PKD, is a genetic disorder where clusters of cysts develop in the kidneys. Cysts are fluid-filled sacs that vary in size depending on how much fluid is in the sac. This disease impacts the ability of the kidneys to filter waste products from the blood. In many cases, the growth of the cysts causes the kidneys to become enlarged which can lead to kidney failure. There are three types of polycystic kidney disease: autosomal dominant (ADPKD), autosomal recessive (ARPKD), and acquired cystic kidney disease (ACKD). Autosomal dominant and autosomal recessive polycystic kidney diseases are both genetic disorders, while acquired cystic kidney disease is not inherited. Autosomal dominant is the

Phenylketonuria is an inherited disorder which means it is passed down from the parent’s genome. It is an inborn disorder, meaning it is developed and can be diagnosed at birth. Phenylketonuria is found more often in the Native American and Northern European ethnic groups backgrounds. It is less commonly observed in people from Asian, African, or Hispanic groups. PKU can cause a harmful increase in levels of an amino acid known as phenylalanine in the blood, by interfering with the body’s ability to metabolize it. Individuals with PKU are unable to metabolize the amino acid because they have a deficiency of the enzyme phenylalanine hydroxylase. Too much phenylalanine can cause brain damage along with other very serious complications if not

High blood pressure which is called hypertension is another common disease which can cause chronic renal failure. This

Kidney failure is a public health problem, which has dramatic effects on patients' health. In some

There are different types of renal failure such as chronic kidney disease which is a slow progression over time and it can go unnoticed for a long time. Acute renal failure occurs suddenly, happening within a few hours or a few days, if not caught in time

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.