Aug 17, 2020 in Medicine Essay

Free Medicine Essay Sample

Cystic fibrosis is a recessive disorder caused by mutations in a gene, cystic fibrosis transmembrane conductance regulator gene that affects the mucus producing organs. The disease results in pancreatic, pulmonary, and gastrointestinal related disorders (O'Sullivan & Freedman, 2009). Cystic fibrosis affects the Caucasian community more than the African and Asian communities (Fass et al., 2014). This paper will briefly highlight the cystic fibrosis, its intensity, symptoms, different therapies and its prevalence in the world.

What is Cystic Fibrosis?

Cystic fibrosis is a genetic disorder of the sweat glands and mucus. It mostly affects the lungs but can also affect the liver, sex organs, the pancreas, and intestines. Cystic fibrosis causes a persons mucus to be thick and sticky clogging the lungs and thus affecting a persons breathing system, making it easy for bacteria to attack the individuals lungs and grow, leading to repeated lung infections and damaging the lungs (Hodson, Geddes, & Bush, 2012).

As seen from above, cystic fibrosis is a recessive order that results from mutations in the cystic fibrosis transmembrane conductance regulator gene (the CFTR gene). There are several mutations that can occur in the CFTR gene, resulting in different defects causing either mild or severe cases of the disease. Cystic fibrosis is inherited as an autosomal recessive gene (Fass et al., 2014).

Levels of Disease or Intensity

Cystic fibrosis is a disease with different types of severity of symptoms that vary from one person to another. There are many factors like age at the time of diagnosis that can affect the patients health and even the course of the disease. While some people are just carriers, and the disorder does not affect them, other are sufferers. According to USNEWS Health (Mitchell et al., 2007), most cystic fibrosis patients live to their mid-30s, although some can live into their 50s while others can die as young as before their 10th birthday. Such rates are due to the difference in mutations of the CFTR gene (Mitchell et al., 2007).

Symptoms of Disease

The symptoms of cystic fibrosis vary in different individuals. While some people have serious symptoms from the time they are born, others have a milder version of the disease that may not show up until they are teens or adults. However, the main symptom of cystic fibrosis is a salty tasting skin or that a baby does not pass stool when it is first born (Cystic Fibrosis, n.d). Other significant signs of cystic fibrosis happen later, and they are related to how the condition affects the digestive, respiratory, and reproductive systems of the affected person (What are the signs and symptoms of cystic fibrosis, n.d.).

Respiratory System Symptoms

As previously stated, people suffering from cystic fibrosis have thick and sticky mucus. The mucus builds in the airways making it easier for bacteria to grow, causing infections. The infections block the airways, which leads to frequent coughs that result in the affected person spitting thick sputum that may contain blood. People with cystic fibrosis have their lungs infected by germs that do not respond to the normal antibiotics. For example, an infection by a bacterium known as Pseudomonas is a sure sign of cystic fibrosis. Also, people with cystic fibrosis may have frequent infections of the sinuses (the hollow air spaces in the forehead, eyes, and nose). Frequent bouts of pneumonia and bronchitis can also occur causing long-term damage to the persons lungs (What are the signs and symptoms of cystic fibrosis, n.d.).

Digestive System Symptoms

It is possible that in cystic fibrosis, the mucus can block ducts and tubes in the affected persons pancreas. The mucus can thus block enzymes from reaching the persons intestines. As a result, the patients intestines cannot absorb proteins and fats causing diarrhoea and some smelly stool. Severe constipation and too much gas may cause pain and discomfort in the stomach. In children, it results in poor weight gain and stunted growth. It can be explained by the fact that children are unable to get enough nutrients from the food they eat as there are no enough enzymes to act on proteins and fats consumed. If the cystic fibrosis gets worse in such cases, the pancreas gets inflamed, there is frequent coughing, diabetes crops in, and liver disease develops due to blocked ducts (What are the signs and symptoms of cystic fibrosis, n.d.).

Reproductive System Symptoms

People with cystic fibrosis may find it hard to sire or have children. The affected women may find it hard getting pregnant as the mucus blocks the cervix. Cystic fibrosis may also disrupt ovulation. For men, they may be infertile as most are born without a vas deferens that helps in delivering sperms to the penis from the testes. The other reason for men infertility is that men may have few sperm count or even no sperm at all (What are the signs and symptoms of cystic fibrosis, n.d.).

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Different Therapies and Nutritional Management

Nutritional Therapy and Management

Nutritional therapy involves a well-balanced diet that is high in calories and proteins but low in fats. A proper nutritional therapy will help the patient to stimulate growth, strength, do more exercises, and improve the development. As part of the nutritional management, the doctor may advise supplements of vitamins A, E, D, and K. The vitamins prescribed are aimed at replacing the fat-soluble vitamins that the patients intestines are unable to absorb. The doctor can also recommend oral pancreatic enzymes to the patient to take after every meal. It will help the patient to digest proteins and fats and be able to absorb more vitamins. To add more calories at night while sleeping, the doctor may suggest using a feeding tube (gastronomy) that is attached to a bottle with a nutritional solution and feeds the patient while sleeping (How is cystic fibrosis treated, n.d.).

Nutritional therapy and management can help in improving development, exercises tolerance, and strength. Good nutrition can help to make the patient stronger and improve his or her resistance to lung infections. Good nutritional management involves a well-balanced diet that is high in proteins but is low in fats.

Gene Therapy

There is no known cure for cystic fibrosis. However, treatment of the disease has improved over the years with the main aim of providing adequate nutrition, preventing blockages of the intestines and lung infection. Gene therapy has been touted as a potential cure for cystic fibrosis. However, trial results have shown limited success in gene therapy although there may be a small benefit to the patient (How is cystic fibrosis treated, n.d.).

Chest Physical Therapy

The chest physical therapy involves pounding the patients chest to dislodge the mucus from lungs so that the person can breathe normally. It is done about three-four times a day. It entails the patient lying on his or her stomach while CPT is being carried out. In this case, gravity works by helping the mucus drain from the lungs. Due to the fact that CPT may be uncomfortable to some people, some devices like an electric chest clapper and a flutter that causes vibrations that help in dislodging mucus from lungs are currently used (How is cystic fibrosis treated, n.d.).

Oxygen Therapy

Oxygen therapy is carried out if the level of oxygen in the patients blood is low. The therapy involves using a mask or through nasal prongs (How cystic fibrosis treated, n.d.).

Worldwide Statistics and Statistics in the UAE

Cystic fibrosis is prevalent in Northern European people affecting about one person in 2,500 newborns. Cystic fibrosis has a reported average carrier frequency of 4% in the Caucasian community. It is, however, not common in Africans and Asians. The predicted cystic fibrosis in the United Arab Emirates is about one person for every 15, 876 newborns (Fass et al., 2014).

Conclusion

A genetic disorder, cystic fibrosis mostly affects the lungs but can also affect the liver, pancreas, intestines and even the kidneys. Patients suffer from repeated coughs, breathing difficulties, fatty stool, finger clubbing, stunted growth and infertility. Sure symptoms of the disease include salty skin, persistent coughs, breath shortness, poor growth, and bulky and frequent greasy stools. Although there is no known cure for the disease, gene therapy and proper nutritional management can help the patient. Chest physical therapy and oxygen therapy can also aid the patient breath more easily and unclog the lungs. Cystic fibrosis is more prevalent in Caucasian communities and less in African and Asian ones. In the UAE, only one person is affected out of 15,876 newborns, which is way below the American levels of one affected person in every 2,500 newborns. More research ought to be conducted on gene therapy as initial results indicate that it can be beneficial in treating the patients. 

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