This is a dissertation chapter on Cystic Fibrosis:
“Woe to that child which when kissed on the forehead tastes salty. He is bewitched and soon must die.” This adage from northern European folklore is an early reference to the common genetic disease recognized today as CF (Cystic Fibrosis). As the saying implies, the disorder once routinely killed children in infancy and is often identifiable by excessive salt in sweat (Kennedy Plourde, “History of CF”). The goal of this dissertation is to inform people of the history and symptoms of this disease, cystic fibrosis.
Cystic Fibrosis is a generalized disorder that affects the mucus-secreting glands of the body as well as the external secreting (eccrine) sweat glands, with the production of lesions in various organs, especially the lungs, liver, and pancreas. “It is primarily a disease of infants and children, with males and females affected in equal numbers.” Because of improvements in medical treatment, many patients survive into their 20’s and 30’s (Shwachman, 613). Most individuals are diagnosed by the age of three, however, nearly eight percent of all newly diagnosed cases are 18 or older. According to the Cystic Fibrosis Foundation (CFF), one of every 3,300 newborns will be diagnosed with CF and 1,000 new cases are diagnosed each year, generally by age three.
Eighty percent of children with CF are born to parents with no prior history of the disease (Kennedy Plourde, “Statistics and CF”). In a few cases, cystic fibrosis is diagnosed for the first time in adults. These are patients in whom the condition has been mild (Shwachman, 613). The median survival age is 31.3 years (Kennedy Plourde, “History of CF”).
Cystic Fibrosis is among the most common of genetic diseases. About five percent of Caucasian Americans are asymptomatic carriers, harboring a single mutant version of the gene in their cells. One child in approximately 2,500 of European decent carries two defective copies and has the disease. In the United States, such numbers translate into a total of some 30,000 people who live with the disorder today. The disease affects roughly 70,000 worldwide (Kennedy Plourde, “History of CF”).
The first clinical description of CF as a distinct disease was in 1936 by Professor Fanconi, a Swiss physician. The first pathological description was that of Dr. Dorothy Anderson of Columbia University in New York. In 1938, she reported in the American Journal of Diseases of Children, showing that what is now called CF was different from celiac disease in that in CF there was a progressive lung destruction and death in infancy or early childhood. Due to the fact that she was a pathologist, Anderson reported her post-mortem studies. Anderson provided the first comprehensive description of the symptoms of cystic fibrosis and of the changes produced in organs after performing autopsies on infants and children and reviewing their case histories. She noted that those changes almost always included destruction of the pancreas (even in infants) and, often, infection of and damage to the lung airways. Anderson also gave the disease its name, calling it “cystic fibrosis of the pancreas,” on the basis of microscopic features she observed in pancreatic tissue. She came to this name because the deceased patients she examined had cysts (fluid-filled sacs) and scar tissue (fibrosis) which replaced the majority of normal tissue in the pancreas (Kennedy Plourde, “History of CF”).
By 1946, studies of patients had also revealed something about the genetics of cystic fibrosis. After examining the pattern of disease inheritance in families, researchers deduced that cystic fibrosis was a recessive condition, probably caused by mutation of a single gene. They found that if an infant inherited a damaged copy of the gene from both parents and therefore made no normal molecules of the protein specified by the gene, the child became ill; however, receipt of one good copy and one damaged copy did not produce disease (Kennedy Plourde, “History of CF”).
In 1949, another pathologist in Detroit described obstruction by abnormal mucus as the principal cause of the progressive lung disease. Dr. Paul di Sant’Agnese, at NIH in Bethesda, described in about 1953 that salt loss as the reason for the deaths of some dozen or so infants with CF during a heat wave in New York city (Kennedy Plourde, “History of CF”).
In the 50’s, Boston, New York, Baltimore, Philadelphia, and San Francisco, California all had CF clinics in operation. This led to unrefined efforts to measure sweat salt concentrations but, in 1959, the Gibson-Cooke pilocarpine iontophoresis procedure was published. Soon it was recognized that the many clinics were missing the boat: they waited until the infant or child got “sick” before treatment was started. As a result, they changed their methods: try to prevent some of the lung damage by initiating full treatment beginning on the day of diagnosis (Kennedy Plourde, “History of CF”).
The exact cause of cystic fibrosis remains unknown. The genealogical nature of the disease, however, suggests that it is inherited as a Mendelian recessive. A region of DNA (deoxyribonucleic acid, the hereditary material) has been identified that contains the gene responsible for cystic fibrosis, but the gene itself has not yet been determined (Shwachman, 613). The gene responsible for causing CF was discovered in 1989 (Kennedy Plourde, “History of CF”). It is proven that if both parents carry the gene responsible for the disease, they have a one-in-four chance of having an affected child (Abramowicz). It is estimated that 1 in 1,000 Caucasian infants develops cystic fibrosis. The disorder is less common in blacks and rare in Orientals (Shwachman, 613).
S. Farber and S. B. Wolbach brought on the most accepted theory concerning the development of the lesions of cystic fibrosis in various organs. They found that there was a defect in the activity of the mucous glands in which abnormally sticky secretions produce duct obstruction with subsequent changes in the affected organs, such as the intestines, pancreas, lungs, and liver. The disturbance of the sweat glands, in which an abnormally high concentration of salt is produced, is not reflected in any demonstrable anatomical change (Shwachman, 613). The symptoms of cystic fibrosis are chiefly due to involvement of the pancreas and lungs, although predominant symptoms may occasionally appear as a result of liver involvement or of the sweat-gland defect. The earliest display of cystic fibrosis may be a form of intestinal obstruction in the newborn (meconium ileus), occurring in approximately 15 percent of the cases (Shwachman, 613). Meconium ileus occurs when a baby is born with a meconium blockage of the bowel. Usually, there is a black, tarry stool-like substance that comes out soon after birth, within the first few days. In CF, this does not come out sometimes, due to the intestinal secretions causing a blockage. This is very serious and requires surgery to eliminate this problem within a few hours, or the baby will not survive (Kennedy Plourde, “Symptoms of CF”).
Another symptom of cystic fibrosis is one called “Failure to Thrive.” This is simply a term used to describe conditions where a child doesn’t gain weight or grow in height normally, despite a normal or big appetite. It may be caused by other things than CF, but CF is commonly one thing to consider when this is seen (Kennedy Plourde, “Symptoms of CF”).
Nearly 80 percent of people diagnosed with CF have symptoms prior to one year of age. The gastrointestinal symptoms include: failure to gain weight, in spite of an excellent appetite; large, frequent, and foul-smelling bowel movements; development of a distended abdomen; and rectal prolapse, at times. In some infants, excessive perspiration may occur. “The pulmonary (respiratory) symptoms are frequent coughing, often paroxysmal in nature; rapid respiration; abnormal dilatation of the pulmonary alveoli (emphysema); pneumonia; an airless or nearly airless segment of the lung (atelectasis); and chronic dilatation of the bronchi or bronchioles (bronchiectasis). The pulmonary infection is very prominent (Shwachman, 613-614).” Other symptoms may include the following: wheezing (especially if one has an asthmatic component to their CF), nasal congestion, and nasal polyps which requires surgery (Kennedy Plourde, “Symptoms of CF”). Approximately 85 percent of patients with cystic fibrosis have complete pancreatic insufficiency, a condition in which the pancreas is unable to secrete pancreatic enzymes and electrolytes. Juandice and anemia are very rarely noted (Shwachman, 613-614).
Diagnosis of cystic fibrosis is established by quantitative examination of sweat for chloride and/or sodium. Patients with cystic fibrosis have an average salt content in sweat from three to five times that found in healthy children (Shwachman, 614). No other disease has a salt concentration as high (Goldberg, Shwachman, and Isralsky, 220).
During the detection of pancreatic insufficiency, an analysis of fluid from the duodenum is helpful. The characteristic changes are the absence of the digestive enzymes (trypsin, lipase, and amylase) and with it an increase in the viscosity of the duodenal fluid. In diagnosis, an X-ray examination of the chest is often helpful. In males, a recent discovery has found a failure of normal development of part of the reproductive system. Because of this reason, sterility results in more than 95 percent of adult males (Shwachman, 614).
Therapy for cystic fibrosis is directed toward treatment of the affected organ systems. “Management of the pulmonary involvement may consist of the following: use of broad spectrum antibiotics, given singly or in combination, either orally and/or by aerosol; physical therapy with exercises and special techniques to get the patient to cough.” In order to treat the pancreatic insufficiency, the affected person is given pancreatin with meals and by dietary adjustments with emphasis on the reduction of total fat intake. Multivitamins are given in liberal quantities.
Important aspects in the management of cystic fibrosis include continuous medical supervision and education of the parents. The extent and severity of the pulmonary lesion is a major factor of the prognosis for cystic fibrosis. Most patients surrender to the disease because of pulmonary disease (Shwachman, 614).
The CF Foundation says that there were 419 deaths in 2000 from the disease. Out of the 419 deaths, they reported 320 from CF centers and 99 from elsewhere If physicians and hospitals don’t register the patient as having CF, or the patients are undiagnosed, the figures will not be 100 percent accurate (Kennedy Plourde, “Statistics and CF”).
Although doctors and scientists are trying to find cures for CF, they can’t work fast enough. People are frequently dying from this disease and the families of sufferers of CF are losing their loved ones. It is important that we support all efforts to find a cure.
__________________________
This is just a sample dissertation (dissertation example) on Cystic Fibrosis. If you need a high-quality custom written dissertation – feel free to contact our professional custom dissertation writing company which provides college and university students with custom Undergraduate, Master’s, MBA and Ph.D. dissertations, thesis papers and research proposals at an affordable cost. Any topics. Any deadlines. Get professional dissertation help right now!