Week 2: Discussion Cystic Fibrosis Essay
Week 2: Discussion Part One 2222 unread replies.2222 replies. A five-month-old Caucasian female is brought into the clinic as the parent indicates that she has been having ongoing foul-smelling, greasy diarrhea. She seems to be small for her age and a bit sickly but, her parent’s state that she has a huge appetite. Upon examination you find that the patient is wheezing and you observe her coughing. After an extensive physical exam and work-up, the patient is diagnosed with cystic fibrosis. What is the etiology of cystic fibrosis? Describe in detail the pathophysiological process of cystic fibrosis. Identify hallmark signs identified from the physical exam and symptoms. Describe the pathophysiology of complications of cystic fibrosis. What teaching related to her diagnosis would you provide the parents? Week 2: Discussion Part Two 88 unread replies.1919 replies. Week 2: Discussion Cystic Fibrosis Essay Tammy is a 33-year-old who presents for evaluation of a cough. She reports that about 3 weeks ago she developed a “really bad cold” with rhinorrhea.
The cold seemed to go away but then she developed a profound, deep, mucus-producing cough. Now, there is no rhinorrhea or rhinitis—the primary problem is the cough. She develops these coughing fits that are prolonged, very deep, and productive of a lot of green sputum. She hasn’t had any fever but does have a scratchy throat. Tammy has tried over-the-counter cough medicines but has not had much relief. The cough keeps her awake at night and sometimes gets so bad that she gags and dry heaves. Through and extensive work-up, she is diagnosed with bronchitis. What is the etiology of bronchitis? Describe in detail the pathophysiological process of bronchitis. Identify hallmark signs identified from the physical exam and symptoms. Describe the pathophysiology of complications of bronchitis. What teaching related to her diagnosis would you provide?
Cystic fibrosis is a genetic disorder currently affecting over 9000 people living in the United Kingdom alone, with millions of people carrying the faulty recessive gene responsible for the disease. This essay is split into 4 distinct sections, firstly looking at the faulty gene and its effects on the organs of the body, followed by an in-depth look at the symptoms of patients suffering with cystic fibrosis, whereas the third section will look at the treatments available to sufferers. The forth section will contain potential future cures and treatments for the cystic fibrosis.Week 2: Discussion Cystic Fibrosis Essay
Molecular Mechanisms
The faulty gene that codes for cystic fibrosis affects organs such as the lungs and pancreas. This fault causes high mucosal build up in these organs. Noticeably with regards to the lungs as the high volume of mucous can cause severe breathing difficulties.
The cystic fibrosis transmembrane regulator (CFTR) protein is coded for by the CFTR gene, in chromosome 7 of the human genome. CFTR is a glycoprotein made up of 1480 amino acids consisting of 5 domains. The CFTR protein is responsible for a variety of functions in the apical membranes of cells including the transport of chloride ions, regulation of the sodium ion channels and the regulation of hydrogen carbonate ion transport across the apical membrane[3]. However, it seems that the main contributing factor to cystic fibrosis is the transportation of chloride ions across the apical membrane and sodium ion regulation.
Mutations in the CFTR gene can be categorized into 6 classes; depending on the effect they have on the production of the CFTR protein. The mutations are listed below in Figure 1, with the consequence of the mutation on the CFTR protein.
I have always been interested in the health field, espicially certain diseases. One disease that really interests me is Cystic Fibrosis, this is because I know someone who has it. I have always wondered what it is, the different symptoms, how it is tested for, treatments, and the future of the disease. The disease is very serious, however many people do not know much about it. Cystic fibrosis is a disease that I researched to obtain more information on.Week 2: Discussion Cystic Fibrosis Essay
Cystic fibrosis is a non-gender biased disease that affects the lungs and digestive system. It is also known as mucuviscidosis because of the mucus that builds up and blocks the respiratory system and pancreas. “A defective gene causes the body to produce an abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. These thick secretions also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food”(cff.org). The disease can be fatal without proper treatment, because unfortunately there is no cure. Every day three people die from cystic fibrosis. This makes cystic fibrosis the most deadly out of 4,000 different inherited diseases. Over 30,000 children and adults in the United States have cystic fibrosis. Most of them are caucasian, but others can be affected too. About 1 in 2,500 caucasians babies are born with it. African-american babies have a much lower chance with every 1 in 17,000 being infected. Asians and native americans have even lower chances than african-americans of having CF. DNA is what makes up the human structure, therefore any defects can cause conflicts. Chromosome seven has a defect in people living with cystic fibrosis. Cystic fibrosis is a serious, hereditary disease.
The type of genetic testing used to detect the DF508 deletion and other mutations is called direct testing. Current testing readily detects up to 90% of carriers in the North European Caucasian population lining in North American and 95% of the CF carriers in the Ashkenazi Jewish population. Approximately 50% of carriers in Hispanic and African American populations are detectable (Lory, 1999).
Cystic fibrosis is an inherited disorder that affects many functions of the body: breathing, digestion, and reproduction. The lifelong illness usually gets more severe with age and can affect both males and female equally. The symptoms and severity of cystic fibrosis differ from person to person. Most patients have both respiratory and digestive problems, while others only have respiratory problems. Intelligence is not affected in people with CF.Week 2: Discussion Cystic Fibrosis Essay
People with cystic fibrosis have secretions that are thick and sticky rather than thin and watery. In CF the glands that produce mucus, saliva, and intestinal fluids do not work properly. Thick mucus in the lungs interferes with the removal of dust and germs and can cause breathing problems, infections, and lung damage. The traditional first line of defense against the build-up of mucus is a regime of physical therapy, which helps bring up the thick mucus using mechanical methods and coughing. This needs to be done once or more times per day, every day (Ramsey, B. W., 1999).
In addition to mechanical stimulation, there are medical treatments that are also useful in helping remove and prevent the viscous secretions. A medical breakthrough in recent years was the discovery that of the three components that make up the thick mucus (protein, bacteria, and DNA of dead white blood cells) the DNA from the WBCs are most responsible for airway destruction. The concentration of dead white blood cells is approximately 1000 times larger in people with cystic fibrosis than it is in the normal lung. The long, viscous strands of DNA from these cells are the hardest things for the body to clear away. Realization of this situation resulted in the development of Genentech’s Pulmozyme (or DNAse), the first drug made specifically to address the problems of the Cystic Fibrosis lung, and one of the first biotechnology drugs. However, one cannot expect DNAse/Pulmozyme to repair scarred tissue. The advantage is only in lowering the viscosity of the mucus and reducing future damage. There is some evidence that it works better on younger patients (Ramsey, B. W., 1999).
Thick secretions may clog the pancreatic duct and block the transfer of enzymes from the pancreas to the intestine, leading to an enzyme deficiency. These enzymes break down food and supply the body with nutrients that are necessary for proper growth. The fats and proteins pass straight through the digestive system and produce greasy, smelly bowel movements. This condition is now correctable with pancreatic enzyme supplements. These pills, which are derived from animal sources (usually pigs) contain varying quantities of lipase, protease, and amylase, which are taken with meals and allow people with Cystic Fibrosis to eat the same foods as non-affected persons. In addition to enzyme supplements, oral supplements to augment total caloric intake may be needed as a result of decreased gastric absorption (Smyth, 1995).Week 2: Discussion Cystic Fibrosis Essay
Cystic fibrosis also affects the reproductive organs, although it affects men and women differently. Males are usually infertile, and females may experience reduced fertility due to thick secretions in the reproductive tract. Women with cystic fibrosis can have children, although the health of the mother may limit this. Childbearing is an exhausting process and some women with CF who have decided to have children have reported that it has severely compromised their health. 98% of men with cystic fibrosis cannot bear children. Sperm is produced in the CF male, but is not correctly transported to the semen because the relevant ductwork is clogged. It may be possible to surgically extract perm from men with cystic fibrosis and in this way allow them to have children (Ramsey, B., 1999).
Most CF patients are diagnosed in childhood. Some patients with mild or unrecognized symptoms may remain undiagnosed until adolescence or young adulthood. Common symptoms include chronic coughing, wheezing, sinus infections, nasal polyps (bumps inside the nose), excessive mucus production, recurrent pneumonia, poor growth, frequent foul smelling stools, enlarged fingertips, and salty tasting skin. The diagnosis of CF is usually made when a sweat test is performed and high levels of salt are found. The sweat glands of people with cystic fibrosis release salt at about five times the concentration released by normal sweat glands. This is the basis for the sweat test. It is also the reason why people affected by CF have salty tasting skin. Genetic testing can also be used to confirm the diagnosis of CF (Ramsey, B., 1999).Week 2: Discussion Cystic Fibrosis Essay
There is no cure for cystic fibrosis. Aerosols are used to ease breathing, and postural drainage or chest physiotherapy helps to remove mucus from the lungs. Hospitalization may be required for a thorough clean out and/or for treatment of lung infections. Pancreatic enzymes are taken with meals to help digest food. To maintain weight, frequent and high-calorie meals and snacks are recommended (Rubinstein, 1996).
There are many different genetic mutations, which lead to many different manifestations of cystic fibrosis. Not everyone with CF will have all of the complications as outlined previously, and some may have other complications in addition to those listed. Research in the field of cystic fibrosis continues at a rapid pace.Week 2: Discussion Cystic Fibrosis Essay