Cystic fibrosis is a genetic condition caused by a mutated gene called the CFTR which stands for cystic fibrosis transmembrane conductor regulator. This condition causes severe damage to the lungs, digestive system, and other organs in the body. It basically affects the cells that produce mucus, sweat, and digestive juices. Gene therapy involves the transfer of copies of the CFTR DNA to the epithelial cells in the airways. This treatment is aimed at replacing the faulty CFTR gene with the working one. The purpose of this paper is to provide an exploration of cystic fibrosis including its etiology, pathology, clinical presentation, diagnosis, and treatment.
Etiology is described as a branch of medicine that deals with the origin and causes of a particular disease. Cystic fibrosis is a genetic condition which leads to recurrent sinus, pulmonary infections, infertility in men and also gastrointestinal problems. A defect in the CFTR gene, therefore, causes cystic fibrosis. According to Ramsey (2011), this particular gene is responsible for the manufacturing of proteins which control the movement of salt and water in and out the body cells. The gene in cystic fibrosis patients produces proteins which do not function effectively. This, therefore, causes thick sticky mucus and very salty sweat. The mucus blocks airways in the lungs hence resulting in lung damage and difficulty in breathing.
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The term pathology is described as a branch of medical science that involves the study and diagnosis of a specific disease. This is achieved through the examination of surgically removed organs, tissues, and body fluids. In 1989, a research conducted using new molecular techniques led to the discovery of the genetic abnormality that causes cystic fibrosis (Ramsey, 2011). It was revealed that the disease is caused by mutations in the cystic fibrosis transmembrane regulator gene. Cystic fibrosis is the most common fatal genetic disease in Caucasians. When it was first discovered, most children who were affected died during early childhood. Due to the improvements in nutritional therapy, antibiotics, and chest physiotherapy, most children now survive into adulthood. This condition leads to clogged mucus secretions in the digestive tract which can develop to malnutrition and vitamin deficiencies.
This disease is mostly exhibited in the upper and lower airways, pancreas, bowel, reproductive tracts. Alton (2015) argues that lung disease is the most common problem in most patients. It is also the most likely cause of death. Patients diagnosed later in childhood are more likely to have pancreatic sufficiency with a chronic cough and sputum production. They tend to experience prolonged symptoms with a recurrent cough which can be dry at the beginning. Later on, the condition may lead to sputum production and prolonged bronchiolitis in infants. Frequent sweat tests and extensive mutation analysis is often required for patients who experience these symptoms.
A complete diagnostic evaluation of cystic fibrosis should include a sweat chloride test and a carrier test. The sweat chloride test is the most commonly used procedure for diagnosing cystic fibrosis mainly because it probes for increased levels of salt in the sweat. The test is executed by applying a sweat-producing chemical to a small area of skin after which, doctors collect the sweat for testing. A carrier test is often done when someone has a history of CF in the family. A simple mouthwash or a blood test can be used to determine if someone is a carrier of the faulty gene that causes cystic fibrosis.
There is no specific cure for cystic fibrosis but treatment can ease symptoms and hence reduce further complications. Doctors often prescribe antibiotics, anti-inflammatory medicines or medicines that help to clear the mucus. These medicines help in treating and preventing lung infections which in return reduce swelling and consequently open up the airways.
References
Alton, E. W., Armstrong, D. K., Ashby, D., Bayfield, K. J., Bilton, D., Bloomfield, E. V., ... & Carvelli, P. (2015). Repeated nebulization of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomized, double-blind, placebo-controlled, phase 2b trial. The Lancet Respiratory Medicine , 3 (9), 684-691.
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.
