Cystic Fibrosis Cystic Fibrosis, also known as mucoviscidosis, is a disabling and fatal genetic disorder inherited as an autosomal recessive trait (OMIM #219700). This disorder is lethal by 2 years old without treatment making it the most frequent lethal hereditary disorder of childhood. Nowadays with treatment, the affected can live for 25 to 30 years or more. Within the U.S. white population, CF has an average frequency of 1 in 2000 live births. The frequency is significantly less among other races (Human Heredity). CF is characterized by the abnormal transport of chloride and sodium ions across the epithelium causing thick, viscous secretions. CF affects the pancreas, liver, intestines, sinuses, sex organs, but most critically the lungs (“Cystic Fibrosis”, 2011). The production of thick mucus in the pancreas clogs the enzyme carrying ducts, interfering with proper digestion. It also blocks the airways in the lungs causing difficulty in breathing, and eventually developing obstructive lung disease and infections that lead to premature death. Most deaths in CF occur from lung infections (Human Heredity). CF is caused by a mutation in the Cystic Fibrosis Transmembrane-conductance Regulator (CFTR) gene on chromosome 7. CFTR is 1 of the 9 Chloride channel proteins now known in humans. It provides instructions and transportation of chloride ions into and out of cells. This protein regulates components of sweat, digestive fluids, and mucus. CFTR is a large gene containing 1,480 amino acids, giving rise to high genetic heterogeneity (Wilschanski, 2010). There are over 1,500 mutations that can produce CF (Bobadilla, Macek, Fine, & Farrell, 2002). However, the majority of the diseased population has a codon, delta F508, deletion on... ... middle of paper ... ...ns are used “because they reach the airways quickly and easily.” Commonly prescribed inhaled medications include mucolytics, antibiotics, bronchodilators, and anti-inflammatory medicines. Mucolytics reduces the stickiness of the mucus and loosens it. Antibiotics are the main treatment for treating or preventing lung infections. They can be given orally, inhaled, or intravenous. Bronchodilators relax the muscles around the airways dilating them. These medicines help improve or prevent lung infections, reduce swelling, thin mucus, and dilate airways. Anti-inflammatory medicines reduce swelling of airways due to continuous infections. (“Therapies for Cystic Fibrosis,” 2012). “Life expectancy in cystic fibrosis (CF) has improved substantially over the last 75 years, with a median predicted survival now approaching 40 years (Clancy & Jain, 2012).
Membranes are involved in Cystic Fibrosis when it comes to the genes that are prone to the disease. In a regular functioning body, the CFTR gene helps make the channel that transports charged chloride ions into and out of cell membranes. In a body with cystic fibrosis, the chloride channels don’t function properly, and do not allow chloride ions into and out of the cell membranes, causing the thick mucus (as mentioned earlier) to be produced. The concentration gradients are involved when it comes to moving these molecules and ions across the cell membranes with passive and active transport. Passive transport substances move down concentration gradients while active transport substances move against their concentration gradients (keep in mind this is in a healthy functioning body). With cystic fibrosis, there is a defect in the transport protein, which does not move through the concentration gradient
They are both used because they do the same thing in different ways and using two of them will make the treatment more effective since they are not acting on the same way. Theophylline will block the receptors on lung tissue that receive signals from things that increase heart rate or cause vasoconstriction. ß2 agonists will help the beta receptors to bronchodilate.
There are two forms of bronchodilators, a short acting and a long acting form. Short acting relieves or stops asthma symptoms and is very helpful during an attack. They are also called ‘rescue’ medications because they are best for treating sudden or severe asthma symptoms. Long acting bronchodilators are used to control asthma, they take longer to work but they also last longer, up to 12 hours, whereas a short acting would only last for about 4-5 hours. Ventolin is a short acting form, it is the recommended medication to use 15-20 mins before exercising.
Cystic Fibrosis (CF) Pathophysiology: Cystic fibrosis is a genetic disease of the secretory glands that affects the respiratory and digestive system. It mainly affects the lungs, pancreas, liver, intestines, sinuses, and reproductive organs. Cystic fibrosis affects the cells that produce sweat, mucus, and digestive fluids. Mucus becomes thick and sticky, causing build-up in the lungs and blocking airways, making it easier for bacteria to develop. This prompts repeated lung infections and can cause severe lung damage after some time.
CF is a chronic condition therefore the patients are either seeking medical attention or receiving (sometime involuntarily) a great deal of medical scrutiny and intervention during their lifetime.
Oxygen, inhaled bronchodilators, inhaled steroids, combination inhalers, oral steroids, phosphodiesterase-4 inhibitors and theophylline are effective medications for COPD (Mayo Clinic, 2016). “Patients with COPD have persistent high levels of CO2, their respiratory centers no longer respond to increased levels of CO2 by stimulating breathing. Therefore, COPD patients with more severe hypoxemia are at higher risk of CO2 retention from uncontrolled CO2 administration” (Van Houten, p. 13). For nurses, “It is important to administer the lowest amount of O2 necessary to patients” (Van Houten, p. 13). Some COPD medicines are used with inhaler and nebulizer devices. It is important to teach patients how to use these devices correctly. (Potter & Perry,
In the Shadow of Illness, the book describes different experiences of families who have or had children with cystic fibrosis (CF). CF is an inherited disease that is passed on from the mother or father who is a carrier, but doesn’t have the condition. Doctors have figured that in this scenario, the parents are likely to have a child with CF. Individuals with CF have to take Cotazymes to help the pancreas digest food. If the person does not take these enzymes, the food goes straight through them as diarrhea. Also, the person’s lungs are affected by a thick mucus that must be removed or thinned before it clogs. Doctors recommend the patient to perform daily breathing exercises that prevent the mucus from thickening; for example, swimming
...a are bronchodilators like anticholinergic, beta agonists, theophylline and oxygen, which are for the advance cases of the disease. In addition, the best treatment for people whom have emphysema is for them to stop smoking.
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Those who have relatives diagnosed with Cystic Fibrosis are at an automatic increased risk to have the disease. For example, in order for a child to have cystic fibrosis, their parents must be carriers of the CF gene. “One CF gene fr...
Cystic Fibrosis is a chronic non-gender biased illness which affects the digestive system and the lungs. This condition also results in the buildup of mucus, which clogs in the respiratory system as well as the pancreas. Cystic Fibrosis occurs because a defective gene causes the body to excrete excessive sticky and thick mucus that clogs the lungs leading to a life-limiting lung infections. When these thick secretions obstruct the pancreas, they prevent the digestive enzymes from reaching the intestines to aid in breaking down as well as absorbing food. However, if Cystic Fibrosis are not treated, it can be fatal as there is no cure. Research shows that each day one person dies from Cystic Fibrosis. As such, this is the most deadly condition
Thomson, Anne H., and Ann Harris. Cystic Fibrosis: the Facts. Oxford: Oxford UP, 2008. Print.
While cystic fibrosis (CF) is not a new disease, there is still a lot to learn about it. In 1938 a pathologist, Dr Dorothy Andersen, provided the first clear description of cystic fibrosis. Before this time there had been reports of people that had the symptoms of someone with CF. During the seventeenth century children with the symptoms of CF were thought to be bewitched and their life expectancy was very short. Dr Dorothy Andersen gave this disease its name because cystic fibrosis refers to the scarring that is found on the pancreas. People with CF also have associated diseases like salt-loss syndrome, obstructive azoospermia, and gastrointestinal abnormalities. CF is inherited from one’s parents, making it a genetic disease. CF is caused by mutations in a certain gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This gene was first discovered in 1989 on chromosome pair 7. Cystic fibrosis is a recessive disease meaning both parents have to be a carrier. Whenever two CF carriers have a child together, there’s a 1 in 4 chance that their child will inherit the CF mutation. Although CF produces coughing it cannot be transmitted any other way than hereditary.
Asthma is treated with two types of medicines: long-term control and quick-relief medicines. Long-term control medicines help reduce airway inflammation and prevent asthma symptoms. Quick-relief, or "rescue," medicines relieve asthma symptoms that may flare up.
...ering to medication antibiotics which fight off infections, bronchodialators used to decrease dyspnea relieve broncho spasms , and pulmonary rehabilitation help betters their condition. The nurse expects the patient to be able to perform suitable activities without complication, avoid irritants that can worsen the disease (contaminated air) and reduce pulmonary infection by abiding to medications.