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The Polycystic Kidney Disease’ Etiology Essay

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Updated: Jun 5th, 2020

This is a disease, usually inherited, that affects kidneys and is known to result in the malfunctioning of the kidneys. It is characterized by the development of swellings on the kidneys referred to as cysts. The kidney’s main function in the body is to filter the blood to remove wastes that result from various biochemical processes that take place in the human body. In addition, the kidney removes excess water from the body which mixes with the wastes to form urine. These functions therefore result in regulation of vital substances in the body for a healthy and comfortable life.

The disease results in poor filtration process. The cysts act like sacks and are usually filled with the fluid. This results in enlarged kidneys that do not function properly a factor that might lead to kidney failure in the long run due to interference with the normal structure of the kidney. Kidney failure necessitates a kidney transplant by the patient or a dialysis process which entails an artificial mechanism of performing the kidney’s functions by use of a special machine. Kidney failure occurs after a long period of time. It should also be noted here that the PKD disease can result in the formation or occurrence of cysts in different organs such as the liver and blood vessels (Wilson 152).

There are two types of PKD namely Autosomal dominant PKD and Autosomal recessive PKD. The former is the most common inherited with symptoms visible at the age of about 30 years while the later is rare with symptoms that occur earliest and in some cases they be experienced even before the child is born.

Macroscopic and Microscopic Findings

Findings for Autosomal Dominant PKD

As stated earlier on this is the most common version of PKD and as suggested by the name, the disease is so serious such that in a family where one parent suffers from the disease there exists a fifty percent likelihood that the gene will be inherited by the child borne of the two parents. It is worth noting here that there still exists a chance that the disease may be inherited y the unborn child even when none of the parents has a copy of the gene. This represents ten percent likelihood because the disease occurrence in patients is spontaneous (Simons 855).

The kidneys have tiny filtering units inside them known as nephrons. It is on these nephrons that the cysts start growing gradually. They, with time, separate and increase in size consequently causing the kidneys to enlarge. These cysts may exist in high concentrations in the kidney but the kidney tends to retain its original shape and orientation (Torres 1290).

Findings for Autosomal Recessive PKD

This complication is as a result of the PKD genes undergoing a mutation process. The genes are usually referred to as PKHD1. The scientific ability of the present times has not been able to identify any other genes that cause the complication but it is believed that they may still be existent. In a family where parents carry the genes but are not themselves affected, there is 25 percent likelihood that the child will inherit the complication. This happens only if both parents transfer the abnormal gene into the child. It therefore means that in situations where only one parent carries the gene there is no chance that the child will inherit the disease (Simons 857).

Symptoms, Signs and Diagnosis

Autosomal Dominant PKD

It is common for people suffering from this disease to experience back pains and pains on the ribs’ side. There are also cases of severe headaches and painful hips. The pain experienced might be permanent in some cases or temporary in others. In addition to the above symptoms, the patients may also experience pancreatic and liver cysts, high blood pressure, problematic heart valves, blood in urine, and aneurysms (Torres 1291).

Diagnosis is achieved by use of kidney imaging studies such as the use of ultrasound. Nowadays the use of Magnetic Resonance Imaging and Computerized Tomography scans is highly applied. Findings by use of these methods vary according to the age of the patients. For example, it has been found that younger patients have smaller and fewer cysts in their kidneys as compared to older patients.

Detections of the diseases can be complicated in some cases for the patients may not show physical symptoms for a very long period of time. In this case the use of ultrasound devices or genetic testing methods to detect the mutations on the autosomal dominant genes is recommended.

Autosomal Recessive PKD

The most common symptoms in children suffering from the disease are high frequency of urination, infection of the urinary tract, and high blood pressure. The disease affects other organs such as the spleen and the liver thereby resulting in anemia. Children suffering from the disease are usually physically smaller in size as compared to other children of the same age.

Diagnosis is achieved by the use of ultrasound imaging system in which harmless sound waves are used to detect any abnormally enlarged kidneys in the fetus. This method is useful in identifying smaller cysts but highly inefficient in the diagnosis of larger cysts such as those found in autosomal dominant PKD. Diagnosis by the use of ultrasound is facilitated by the fact that the disease tends to result in scars forming on the liver (Wilson 151).

Treatment and Prognosis

Autosomal Dominant PKD

There is no cure for this disease. There are, however, several measures that can be used with the aim of reducing the pain, blood pressure, and infections. Depending on the cause of the pain, over-the-counter medication may be recommended by physicians. High blood pressure can be reduced by enhancing a change in the lifestyle. The urinary tract infections on the other hand may be addressed by the use of antibiotics. Kidney transplant and dialysis should be used in cases of kidney failure (Wilson 155).

Autosomal Recessive PKD

In children, the high blood pressure can be controlled by use of medicines. Just as in autosomal dominant PKD, urinary infections can be addressed by use of antibiotics. Children suffering from the diseases should be advised and encouraged to eat highly nutritious foods to improve their growth. Kidney dialysis or transplants should be used in cases of kidney failure.

Relevance on Dental Practice

It is important for dentists just like any other medical practitioners to first of all understand the history of the patient’s health before carrying out any medical operation. This will ensure that the treatment offered is safe.

It has been found that there is a high likelihood that patients with kidney diseases will have periodontal disease due to the characteristic build-up of bacteria in the mouth as a result of the infection in the kidney. It is therefore important for people in dental practice to clearly understand kidney disease such as polycystic kidney disease (Bisceglia 30).

Works Cited

Bisceglia, Mathew. “Renal Cystic Diseases: A Review.” Advanced Anatomic Pathology 13.2 (2006): 26-56. Print.

Simons, Walz. “Polycystic Kidney Disease: Cell Division with a C(l)ue?” Kidney International 70.5 (2006): 854-865. Print.

Torres, Harris. “Autosomal Dominant Polycystic Urology.” Lancet 369.9569 (2007): 1287-1301. Print.

Wilson, Philip. “Polycystic Kidney Disease.” New England Journal of Medicine 350.3 (2004):151-164. Print.

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