Polycystic Kidney Disease Essay Example

helps determine the cause and origin of the disorder. PKD can manifest in both dominant and recessive forms of autosomal traits. Autosomal dominant PKD primarily affects the timing and severity of cyst formation, typically occurring in middle age or before the age of 50.

Autosomal dominant PKD affects 1 in 500 Americans. In contrast, autosomal recessive PKD occurs early in life, starting from infancy. Autosomal dominant PKD, on the other hand, is the more common form that typically occurs in one's 30's and 50's. Although it is easier to treat, this form is not without challenges. It can still lead to kidney failure and other side effects. However, these complications tend to manifest later in life and are generally easier to diagnose.

Autosomal recessive PKD is the most rare and severe type, affecting only 1 in 20,000 people. Diagnosing PKD in children can be challenging, so gene tests are often required. In order to have ADPKD, it is enough for one parent to have the gene, whereas both parents must possess the trait for ARPKD to occur. ADPKD has a higher likelihood of happening compared to the recessive type because both parents need to have the AR trait, resulting in a 25% chance of their child developing ARPKD. On the other hand, there is only a 50% chance of passing down the ADPKD trait, which explains why it is the most common form of PKD, occurring in 90% of cases.

PKD symptoms can be identified relatively easily compared to other diseases due to the specific areas of pain, bodily activity, and the site of major issues such as aneurisms. PKD commonly results

in diverticulitis (which is the bulging, inflammation, and infection of sacs in the intestine, typically the large intestine), as well as aneurisms and cysts present in the brain, aorta, liver, pancreas, kidneys, and testicles. Individuals who carry the PKD trait often have cysts on their liver and pancreas, while kidney cysts are a symptom experienced by all affected individuals.

The symptoms of PKD include abdominal pain, blood in urine, excessive urination at night, drowsiness, and nail deviations. These symptoms are caused by the cysts in the body as well as the mentioned conditions. If there is a reason to suspect PKD, doctors generally conduct various tests, mainly focusing on blood analysis. This is logical as the kidneys are responsible for regulating toxin and vital substance levels in the blood. Consequently, abnormal blood results can have negative effects on other bodily functions.

When checking for PKD, doctors will initially assess the diastolic/systolic blood pressure, blood count, and heart efficiency, including heart murmurs and abnormalities. Regardless of the results, the doctor will proceed with other tests such as detecting infections in the abdominal area and conducting full scans of the abdomen. The final tests, which confirm the presence of the disease, involve urinalysis and cerebral scans/ultrasounds.

These are solely diagnosis tests, but there are also genetic tests available for individuals to determine if they have acquired the AD or ARPKD trait. These two genetic tests are conducted for ADPKD and ARPKD and are commonly performed after birth but can also be done later in life. The test involves a simple blood sample that is examined for the presence of the genetic disease. The treatment

options for PKD include dialysis sessions, kidney transplants (which may require the transplantation of other organs due to the viability of cysts in other organs), and various remedies for blood issues, such as hypertension. Dialysis treatments serve as blood-cleaning sessions when the kidneys are unable to perform their normal function. They act as an artificial kidney by filtering the blood and removing waste along with excess water through ultrafiltration. However, it is worth noting that dialysis treatments are costly and come with potential negative effects as well as guaranteed side effects.

During peritoneal dialysis treatment, there is a risk of infections and bacteria entering the body through the catheter in the peritoneum and colonizing. Additionally, the dialysis solution that circulates in the body can cause malnutrition. This solution enters the stomach and reduces the patient's appetite, resulting in a noticeable weight loss. This side effect is not as severe as full starvation, but it does lead to a significant decrease in food intake.

The final two primary side effects are itching and anemia. Dialysis is necessary because the kidneys are no longer able to filter the blood directly. This has an advantage because it allows individuals with damaged kidneys to live longer and maintain normal levels of substances in their blood. However, dialysis is not able to remove all toxins and substances from the blood. One of these substances is phosphorus, which leads to elevated levels and causes persistent itching. Additionally, excessive phosphorus in the skin can trigger the development of psoriasis if the immune system deems it necessary.

Anemia, on the other hand, occurs in the body when the kidney

cannot stimulate the growth of red blood cells, resulting in a low hemoglobin count. In addition, dialysis can cause hypotension as a minor side effect. However, many individuals with dialysis-induced hypotension can be effectively treated through medical and nutritional interventions. It is important to note that dialysis is not the only treatment option available. An obvious alternative is an organ transplant, although this procedure is costly due to the long waiting lists for donors and the increased chances of failure associated with invasive surgery.

Organ transplants may fail due to organ rejection, although there are tests to assess compatibility between a body and organ, they are not always accurate in predicting the outcome. The usual treatment options involve using antibiotics, making dietary changes to improve heart rate and blood pressure, as well as surgical intervention to address heart murmurs and other bodily issues. While these treatments have both drawbacks and advantages, they enhance the quality and length of life for individuals with PKD and are essential for their survival.

PKD is a highly destructive disease that affects fewer individuals compared to other diseases, but it still impacts them. It disrupts various bodily systems like the digestive tract, urinary tract, cardiovascular system, and organs. Furthermore, the treatment for this disease causes side effects that have adverse effects on the rest of the body. Despite the absence of a cure, individuals still manage to cope with PKD. Being a genetic disorder, PKD ultimately leads to death and no survivors have emerged with stories pertaining to this disease. In summary, PKD severely afflicts the body and its symptoms are devastating.

Despite the fact that

infections, aneurysms, body distortions, and total failure are anticipated outcomes of PKD, individuals continue to fight against this rare disease. It cannot be disregarded. Numerous foundations, such as the PKD Foundation and The Cure Foundation: PKD, are actively seeking medications and drugs to support individuals carrying the PKD trait. The disease is unlikely to ever come to an end unless it becomes possible to manually select genes, which is nearly impossible in the near future. Nevertheless, as the years go by, the quality of life for people with PKD will undoubtedly improve.