About Polycystic Kidney Disease

Introduction


There are more than 4,000 genetic abnormalities, according to the World Health Organization, some of which have very modest effects on a person's health, while others have a profound influence and may even be fatal on another person's. One of these 4,000 inherited conditions is polycystic kidney disease (PKD).

Impact of Polycystic Kidney Disease


A genetic disease called polycystic kidney disease (PKD) causes kidney cysts to form and has a severe effect on the person who has it. The renal tubular epithelial cells that cause the cysts gradually compress the parenchyma and impair renal functioning (Igarashi and Somlo). The kidney's role is filtering toxins from the blood, and because the cysts compromise its function, the blood eventually becomes full of toxins which can cause further issues in the body. The PKD cysts can cause the kidneys to significantly enlarge as they replace most of its structure and thus result in renal failure. Once PKD results in kidney failure, usually after years, patients will need dialysis, or in some cases, a kidney transplant. PKD can likewise bring about cysts in the liver and other issues in various organs, such as heart and brain vessels. The number of cysts and the severity of the complications they cause aids specialists in distinguishing Polycystic Kidney Disease from harmless cysts that frequently occur in later years of life in the kidneys. PKD has no cure, however, some treatment options exist, albeit expensive and sometimes unattainable.

Types of PKD


Polycystic Kidney Disease is a particularly rare disorder. It is regularly an autosomal trait that exists in 1 of every 1000 individuals who suffer, or will eventually suffer from it. The disorder has both forms of autosomal traits: autosomal recessive and autosomal dominant (Igarashi and Somlo). Autosomal recessive and dominant traits are those that are passed on by non-sexual genes. A person with Autosomal Recessive Polycystic Kidney Disease (ARPKD) will experience the impacts and strains of PKD at an early stage in life from infancy. ARPKD occurs in 1 in every 20,000 individuals globally (Wilson). Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the more common kind, occurring in 1 in every 800 live births, and is easier to treat compared to ARPKD (Wilson). To get ADPKD the gene must be present in only one parent while ARPKD requires the trait to be present in both parents, hence why ADPKD is more common.

Symptoms


Compared to other genetic disorders, PKD side effects are relatively easier to spot because of the distinct regions of major problems such as aneurysms, bodily activity, and pain. The effects of Polycystic Kidney Disease are often diverticulitis (inflammation, bulging, and intestine sac infections, in most cases, the large intestines), aortic and brain aneurysms, and the presence of cysts on the kidney, pancreas, testicles, and liver. Other symptoms include abdominal pain, nail deviations, excessive urination at night, blood in the urine, and drowsiness. These manifestations are brought about by the presence of cysts as well as the other effects of PKD.

Diagnosis


If doctors suspect PKD, then they test several things in the body, mainly the blood because the kidneys are the primary organs that regulate the toxins and other essential substance levels in the blood meaning that when they are affected, the blood will be the primary indication. PKD diagnosis involves first establishing the exact blood pressure, diastolic/systolic blood pressure, and the heart's efficiency in relation to heart murmurs and various anomalies. Whether the test results are positive or not, the specialist will conduct further tests, such as full abdominal scans and checking for infections in the abdominal area, to prevent misdiagnosis as there are various conditions that could be mistaken for PKD (Nahm, Henriquez and Ritz). Further tests include cerebral ultrasounds and scans (Bowsiya). While these are simply diagnosis tests, genetic tests exist that show whether an individual has obtained the autosomal recessive or autosomal dominant traits. These tests are normally done after birth but can also be used later in life. They involve testing the blood for the genetic disease (Nahm, Henriquez and Ritz).

Treatment


The most common treatment choices for Polycystic Kidney Disease are dialysis, kidney transplants (various organs might also need to be transplanted depending on the number of cysts in the organ), and an assortment of solutions for blood issues like hypertension (Bowsiya). Dialysis treatments are required as PKD adversely affects the kidneys and inhibits their function, thereby making it necessary for dialysis to clean and remove the waste in the blood. However, this type of treatment is extremely costly and can also lead to some side effects such as the possibility of bacteria getting into the blood and infections. Malnutrition, anemia, high phosphorous levels, and itching are also possible side effects of this form of treatment. Apart from dialysis, a liver transplant is also a viable form of treatment. Like dialysis, this is also costly, and also, there is a long list of patients waiting for donors. Organ transplants may fail to work if the patient's body rejects the donated organ. Another alternative is the use of antibiotics together with dietary changes to fix the heart rate as well as surgery for other problems in the body. These treatments are necessary if the patient is to live a quality life with PKD.

Conclusion


Polycystic Kidney Disease is a genetic disorder affecting fewer individuals than other maladies yet it affects them nonetheless. It affects the digestive and urinary tracts, the cardiovascular system, and various organs including the liver and pancreas, and its treatment options have negative side effects. There is no cure for PKD, but it is possible for individuals to cope with it. There are numerous scientists conducting research to find drugs and medicine that will supplement Polycystic Kidney Disease trait carriers. The disease will probably not be eradicated unless there is manual gene selection in the future. However, the quality of life for those living with the disease will undoubtedly improve in the coming years.


Work Cited

Bowsiya, Shabana. “Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment.” International Journal of Pharmaceutical Sciences Review and Research (2016): 18-21.
Igarashi, Peter and Stefan Somlo. “Polycystic Kidney Disease.” Journal of American Society of Nephrology (2007): 1371-1373.
Nahm, Anna-Maria, Daniel Ernesto Henriquez and Eberhard Ritz. “Renal cystic disease (ADPKD and ARPKD).” Nephrol Dial Transplant (2002): 311-314.
Wilson, Patricia D. “Polycystic Kidney Disease.” The New England Journal of Medicine (2004): 151-164.

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