Disease Process and Nursing Management Research Paper

Werner Syndrome, according to Beighton and Beighton (2012), is A rare progressive disorder that is characterized by the dramatic appearance of (progeria) features which are associated with normal aging. This disorder is caused by WRN gene mutation because of abnormal Werner protein inherited from both parents. Individuals who have this disorder often until their puberty. In most cases, teenagers who have this disorder experience normal development and this makes it difficult to detect that they have a problem. However, the symptoms start manifesting themselves at the time they reach their twenties. It may start with loss or turning off the hair into a gray color, something that is often associated with the elderly.

As the diseases progress, their voices may become hoarse and sometimes they may even find it difficult in making normal speeches as would be expected of them. At this stage, the patient may in undertaking some physically demanding tasks because of the weakening of the bones, muscles, and other body organs. This accelerated premature aging process affects almost all the organs and body parts. The skin would become thin and hardened and Kamath (2007) says that the patient may acquire a facial appearance often as being bird-like. As the disease progresses, the affected individual would develop abnormally thin legs and arms, a condition which is attributed to abnormal fat deposition (Pirzio, Pichierri & Franchitto, 2008). The median age of death for these people is 47 years which is often caused by cardiovascular complications or cancer. The following diagram shows how the abnormal gene is transferred from the carrier parents to the child.

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Gene Transfer
Figure 1: Gene Transfer. Source (Salk, Fujiwara & Martin, 2013)
Etiology and Incidence
Werner Syndrome is caused by mutations in WRN gene. WRN gene is responsible for provision of instructions used in producing Werner protein. This protein helps in the repair and maintenance of DNA. Alteration of WRN gene causes production of that is not able to maintain the DNA as required. Moreover, this protein is disintegrated at a higher rate than is the case in normal cells. Sometimes the damaged DNA is allowed to accumulate which leads to impairment of cell activities (Pirzio, Pichierri & Franchitto, 2009). The impairment leads to some of the common symptoms associated with the disorder. According to Kamath (2007), Werner Syndrome has a global incident rate of about 1 in every 100,000 live births. However, there is a variation based on the regions. The incidence is high in Japan where it is estimated to be affecting 1 in every 20,000-40,000 live births. However, the United States of America has one of the least cases of this disease, estimated to be about 1 in every 200,000 births (Pirzio, Pichierri & Franchitto, 2008).

Clinical Manifestation
According to Salk, Fujiwara and Martin (2013), the clinical manifestation of this disorder may start to appear as early as at the age of six. However, in most of the cases the manifestations start at the end of the puberty. There are six cardinal symptoms of the disease. One of the common symptoms is graying of the hair prematurely which is sometimes associated with hair loss. The patient may have bilateral cataracts, a condition often associated with the elderly. Tightening of the skin or atrophied is another common characteristic among these patients. Another problem is the calcification of soft tissues which reduces their functionality. At advanced stages, the patient would develop sharp (bird-like) facial features because of the abnormality of the DNA. The patient would also develop abnormal hoarse voice. This disorder affects 1 in every 100,000 live births in the world, but there are regional variations as discussed above.

Diagnostic Evaluation
Sufferers of this disorder often inherit a copy of this abnormal gene from each of the parents, both of whom must have been carriers. They start displaying accelerated premature aging, which often begin soon after puberty, especially in the early twenties. The diagnosis of this disorder is often based on the six cardinal symptoms which have been discussed in the section above. Diagnosis can be done by evaluating the patients eyes, skin, hair, face, voice, and body structure. The symptoms may occur at varying rates in different patients. An ulcer which is very difficult to treat is another factor that may help doctors to conclude that one is suffering from this unique health condition. The abnormality of Werner protein reduces the potential of the skin cells to replicate normally to repair the damaged cells, making it difficult to treat ulcers among these patients. Imaging studies may be conducted to detect abnormal cells which are related to the disorder (Aggarwal & Kolodner, 2011). Ophthalmologist may monitor the possible development of cataracts while cardiologists may need to to monitor performance of the heart.

Therapeutic Management
Once the diagnosis confirms that one has Werner Syndrome, it is always prudent to start offering immediate medical care. According to Aggarwal and Kolodner (2011), it is still not yet clear how the syndrome can be treated in order to eliminate its symptoms. That is why currently the therapeutic management of this disease only focuses on managing of specific symptoms that are seen in the patient. It means that therapeutic management of Werner Syndrome requires a closely coordinated effort from different specialists who will need to develop a comprehensive plan on how the patient will receive treatment (Aggarwal & Kolodner, 2011). Different people with this disorder start exhibiting different characteristics at different stages. The most important factor in the management of this disorder is to deal with each symptom as it occurs, giving special focus to those which are life-threatening.

Orthopedist will be needed to diagnose the patients skeleton, joints, muscles, and related tissues on a regular basis to ensure that abnormalities in these areas are detected early enough and dealt with as soon as they occur. This physician may also help the patient to be engaged in light exercises to strengthen the bones and muscles. However, before prescribing any form of exercise, the orthopedist will need to consult cardiologist to ensure that the heart is stable enough to sustain the needed exercise. The cardiologists will also be monitoring the condition of the heart to ensure that any potential threat is eliminated as soon as it is detected.

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