Cystic fibrosis is genetic disease condition which an individual can inherit from his parents. The disease condition results from a mutation in a gene which consequently causes a defect in the protein that is responsible for moving salts in and out of cells. This effect results in the formation of thick, sticky mucus in the surface of organs such as the lungs and the pancreas. Manifestations of cystic fibrosis include difficulty in breathing, coughing out thick mucus, and salt in sweat. Persistence of the disease condition may lead to severe conditions such as lung failure and infertility in males. Diagnosis is available for cystic fibrosis as well as treatment remedies. Individuals whose partners' relatives have the disease are advised to undergo genetic screening for the disease. This paper will give a descriptive overview of cystic fibrosis; its cause, symptoms, complications, diagnosis, treatment, and prevention, and also give out some of the risk factors associated with the disease
Cause and Description of the Disease
The underlying cause of cystic fibrosis is believed to be mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) which causes a functional defect of the CFTR protein. The defect changes the normal functionality of the CFTR protein which is to move salts in and out of the cells. The mutations in the gene cause the formation of a thick, sticky mucus in the lungs, pancreas and also in other organs. The blockage of pathways in the lungs and the extensive damage to the lung tissue may lead to a state of respiratory failure. Cystic fibrosis is a terrible disease condition in which the mucus clogs the airways in the lungs, trapping bacteria, which then causes a series of infections. The disease condition is best described as a progressive, genetic disease which persistently causes infections of the lung thereby limiting the ability to breathe over time ( Tuchman et al. 2010) . Just like in the lungs, the disease causes complications and infections in different ways in other organs as well. In the pancreas, the thick mucus blocks the release of digestive enzymes which are necessary for digestion and absorption of food nutrients.
Delegate your assignment to our experts and they will do the rest.
Cystic fibrosis presents as a very complex disease, and the symptoms may vary from one person to another. The disease may go as far as affecting other lower organs such as the liver, the kidneys, and even the reproductive organs. In the liver, it blocks the bile duct and progressively causes liver disease. In men, the disease may cause infections or blockages in the organs such as the sperm duct thereby affecting or limiting their ability to have children. Some of the risk factors associated with cystic fibrosis are family history and race. The disease being caused by a genetic disorder, it is possible that an individual may inherit the defective genes from his or her parents. Studies have shown that, whereas the disease condition may occur in all races, it is most common among the white people especially those of the Northern European ancestry.
Symptoms of the Disease
People with cystic fibrosis often have a higher level of salt in their sweat. Today, with improved technology, newborns can actively be screened for the disease conditions and diagnosis can be performed as early as possible before the symptoms get to develop. Most of the symptoms of the disease manifest in the respiratory and the digestive systems. Other atypical symptoms may include infertility in males. In the respiratory system, the thick and sticky mucus clogs the pathways of air, in and out of the lungs, and cause various serious complications in the lungs. The symptoms and signs of CF in the respiratory system include wheezing (shortness of breath), exercise intolerance, persistent lung infections, persistent cough with the production of thick mucus and a stuffy nose. Patients often cough out thick mucus or sputum and have periods of breathlessness ( Ramsey et al. 2011) .
In the digestive system, tubes carrying digestive enzymes from the small intestines and the pancreas are blocked. This condition limits two vital processes, that is, the digestion and absorption of food nutrients. Since nutrients can no longer be absorbed into the walls of the small intestines, the individual is faced with various severe challenges. Such an individual may have signs and symptoms such as foul-smelling and greasy stools, reduced weight gain and poor growth (in children), intestinal blockage especially in newborns and severe constipation. Other symptoms include straining when passing stool which may also cause the end of the large intestine to protrude out of the anus. In the case of such an observation in children, parents are advised to see a doctor, as this could be a sign of the disease.
Diagnosis of the Disease and Genetics
Studies have indicated that people with the disease, borrow copies of the defective gene, each copy from each parent. In order for an individual to fully manifest the disease condition, he or she must have acquired one copy of the gene from each parent, and both parents must possess at least a copy of the gene. A person having just one copy of the gene remains a carrier and does not have the disease ( Ramsey et al. 2011) . The chance of two CF parents having a CF baby is one out four. Diagnoses have indicated more than one thousand seven hundred mutations in the CF gene. Today in the U.S., more than thirty thousand individuals have been diagnosed to be living with the disease. In the diagnosis of the disease, the root of the cause of the disease condition is often checked. A defect in the CFTR protein or a mutation in the CFTR gene must be noted in order to ascertain the nature of the disease condition ( Debray et al. 2011) .
Complications and Problems associated with the Disease
Cystic fibrosis comes with various serious complications which mostly affect the respiratory and the digestive systems. In the respiratory system, complications such as damaged airways, chronic infections, and growths in the nose may arise. Cystic fibrosis is the leading cause of bronchiectasis, which is a condition associated with damages of the airways ( Sly et al. 2013) . Another severe complication of the respiratory system is the coughing of blood; a condition referred to as hemoptysis. Another condition known as pneumothorax is also associated with cystic fibrosis and is characterized by air collecting in the space between the lungs and the chest wall which causes pain and breathlessness. Other complications of the respiratory system include respiratory failure in chronic conditions and acute exacerbations. When the disease is left untreated and uncontrolled, it may lead to serious lung conditions such as lung failure.
The major complication of the digestive system as a result of cystic fibrosis is nutritional deficiencies. The blockage tubes in the pancreas and the small intestine limit the digestive processes such as absorption of nutrients. Another complication that may be brought about by CF is diabetes as insulin required to control sugar is blocked in the pancreas. Other complications include blocked bile duct and intestinal obstruction. The disease condition also represents a major risk factor for distal intestinal obstruction syndrome, where a blockage occurs at the point where the small intestine meets the large intestine. Studies suggest that a large percentage of men with the disease are infertile as the thick mucus blocks the vas deferens. Other complications associated with the disease include osteoporosis, electrolyte imbalances in the body and dehydration.
Treatment and Prevention
Treatment plans are available for people suffering from the disease and patients need to work closely with their health professionals in order to keep the symptoms at bay. Therapies offered for CF patients include airway clearance which helps in getting rid of thick mucus build up in the lungs. Equipment such as the inflatable vests is used by many patients, which vibrate the chest at high frequencies to loosen and thin mucus. Other remedies such as the use of inhaled medicines and pancreatic enzyme supplements are also applied in the treatment of the disease. The inhaled medicines open up the airways while the pancreatic enzyme supplements work to improve absorption of nutrients. It is advisable for partners to know the status of their close relatives in relations to cystic fibrosis and consequently undergo genetic testing before they get to have children.
Conclusion
Cystic fibrosis, as described above, presents as a very serious disease condition whose is genetic hence, very challenging when it comes to treatment. Genetic screening is available, and newborns may also be screened for the disease and diagnosis done within the first months. The disease is said to be more popular among the whites as compared to other races. The symptoms of the disease, as discussed above, are very severe and require an individual to stay close to his or her medical profession in order to stand a better chance against the disease. Complication such as lung failure, hemoptysis, and infertility in males, are quite severe. The diagrams above represent some of the symptoms and complications associated with the disease. Partners are advised to know the CF status of each other's relatives and parents before having kids to ensure that they raise kids who are free of the disease condition.
References
Debray, D., Kelly, D., Houwen, R., Strandvik, B., & Colombo, C. (2011). Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease. Journal of Cystic Fibrosis , 10 , S29-S36.
Ramsey, B. W., Davies, J., McElvaney, N. G., Tullis, E., Bell, S. C., Dřevínek, P., ... & Moss, R. (2011). A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. New England Journal of Medicine , 365 (18), 1663-1672.
Sly, P. D., Gangell, C. L., Chen, L., Ware, R. S., Ranganathan, S., Mott, L. S., ... & Stick, S. M. (2013). Risk factors for bronchiectasis in children with cystic fibrosis. New England Journal of Medicine , 368 (21), 1963-1970.
Tuchman, L. K., Schwartz, L. A., Sawicki, G. S., & Britto, M. T. (2010). Cystic fibrosis and transition to adult medical care. Pediatrics , 125 (3), 566-573.
