Cystic Fibrosis - Research Paper Example

? Cystic Fibrosis Introduction Medical archives indicate that, among the litany of genetic diseases known to affect man, cystic fibrosis constitutes one of the thoroughly researched and understood diseases. To this end, it has provided insight on the multiple medical problems that arise from a single genetic defect. Moreover, research on the diseases has improved man’s comprehension of genes, cells and proteins that interlock in a complex interaction to produce organ level disorders. Cystic Fibrosis has been identified as a progressive disorder that affects thousands of people and often results to fatalities. To better provide insight of cystic fibrosis, an intricate understanding is essential on its historical evolution, causes, signs and symptoms, prevalence rates, treatment and management. Historical Overview of Cystic Fibrosis The exact date on the first case of cystic fibrosis has not yet been clearly established. However, it is believed to have been affecting man since pre-historic times. The precinct on its pre-historic existence is attributed to its mode of transmission. In effect, cystic fibrosis occurs through genetic mutation in the Cystic Fibrosis Trans-membrane Conductance Regulator (CFTR) (National Heart Lung and Blood Institute, 2011). Consequently, the mutation is transmitted across generations. To this end, medical researchers believe that the original genetic mutation may have occurred more than fifty thousand years back. Other medical researchers from the Oxford University Gene Medicine believe that the first case of Cystic Fibrosis occurred in Germany 400 years ago. However, the first documented evidence of the Cystic Fibrosis occurred in the 1930’s. Consequently, Dr Franconi, a Swiss pediatrician, is credited with documenting the first paper on cystic fibrosis. To this end, he to referred to it as the ‘celiac syndrome.’Moreover, Dr. Franconi described it as a disease caused by changes in the pancreas. Further research in 1938 was conducted by Dr. Dorothy Andersen from the New York Babies Hospital. She coined the term cystic fibrosis and theorized that the disease was caused by Vitamin A deficiency. By 1943, Dr Harry Shwachmann and Dr. Sidney Farber theorized that the excessive secretion of mucus was linked to the disease. Furthermore, the earlier theory pertaining to vitamin A was disputed by several researchers. During this time, Penicillin was part of the antibiotics used in the treatment. In the 1950’s, the sweat test became the standard measure used in diagnosis of cystic fibrosis. Dr Paul di Sant’ Agnese is credited with developing the sweat test that is still utilized presently in testing cystic fibrosis. Moreover, by 1955, foundations for contemporary methods of treatment were laid by Dr. Shwachman. In effect, these treatment methods included early diagnosis, sufficient nutrition and early treatment. Research on high fat diets as treatment methods were also done by Dr. Archie. The 1960’s was characterized by the creation of research organizations that focused on cystic fibrosis. These was through collaborative efforts of parents with children affected by the genetic disorder as well as the few, lucky adult patients. The 1970’s was marked by innovations into neonatal screening for the disease. Moreover, there was a growth spurt of specialized treatment clinics and the use of high fat diets in treatment of cystic fibrosis. In 1989, ‘the cystic trans-membrane gene conductance regulator gene’ was identified as the site where mutation leading to the disease occurred. The decade period of the 1990’s saw the innovation of gene replacement treatment in treating for cystic fibrosis. Moreover, the mucolytic pulyzone drug was approved by the Food and Drug Administration to be used in treatment of cystic fibrosis (Orenstein, 2004). Lastly, the 2000’s witnessed significant progress in the treatment of the disease whereby the median life expectancy increased to 37 years as at 2005. This was a rapid increase compared to 5 years life expectancy over 50 years ago. Moreover, research has continually been focused on attempts to achieve a cure in the not so distant future. Causes of Cystic Fibrosis Cystic fibrosis has been identified as a genetic disorder inherited from parents to child. To this end, the afflicted child inherits one defective gene of the CF disease from each parent (Wine, 2003). If a child inherits a normal functioning CFTR gene from one parent and a defective CFTR gene from the other parent, he or she essentially becomes a CF carrier. In most cases, the CFdisease is not manifested in the parents. The defect in the gene arises from mutation in the Cystic Fibrosis Trans-membrane Conductance Regulator (CFTR). The CFTR gene issues instructions for transporting chloride ions within and out of cells (Wine, 2003). Moreover, a normally functioning CFTR gene regulates the quantity of water in the mucus. As a result, the mucus produced is thin and flows freely. To this end, mucus is a constituent of salt, water, proteins and sugars. Mucus assists in the lubrication and cleansing of the respiratory, reproductive and reproductive passageways. In the event of mutation in the CFTR genes, the functioning of the chloride transportation pathways is disrupted. Evidently, the flows of water and chloride ions across the membranes are not regulated. Eventually, there results an excessive production of mucus that is characteristically thick and has insufficient water content. This excessive secretion of mucus occurs in the digestive, respiratory and digestive tracts. For example, within the lungs, cystic fibrosis results in mucus build up that affects the sterility of its surface. Moreover, the mucus build up creates a conducive environment for the growth of bacteria. Consequently, the lungs become susceptible to infections such as pneumonia. On the other hand, the pancreas secretes below normal amounts of fluids resulting into blockage of the ducts. Consequently, the pancreas rapidly degenerates. The reproductive system such as the vas deferens and cervix in males and females are equally affected. At the onset of the mucus build up due to cystic fibrosis, signs and symptoms of the CF disease become evident. Signs and Symptoms According to the Mayo clinic staff, the signs and symptoms of cystic fibrosis vary from across individuals. Moreover, it is dependent on the severity or projection of the disease. Furthermore, the signs and symptoms may deteriorate or improve over the cause of time. In addition, the signs and symptoms may manifest itself later in life such as teenage or adult stages. However, in most circumstances diagnosis of the disease occurs at an early age such as infancy. In effect, the signs and symptoms are usually manifested in either or the entire following organs; respiratory, digestive and reproductive organs. Foremost, the signs and symptoms synonymous with infection to the respiratory tract include; persistent and excessive coughs characterized by thick mucus spits. Evidently, the excessive coughs are in response to the heavy mucus build up in the lungs that are sticky and inflame the lungs (Alma, 2008). Consequently, breathing becomes increasingly difficult and in effect leads to persistent coughing. Moreover, the excessive coughs irritate and inflame the throat and lungs. Another symptom of the respiratory tract relates to the difficulty in breathing such as breathlessness and wheezing. The breathing problems arise from constriction of the lungs due to inflammation caused on the air pathways. Furthermore, the patient’s nasal tract is inflamed and characterized by a running or stuffy nose. The patient equally experiences repeated, bacterial lung infections. To this end, the excessive, thick and sticky mucus produced results in more bacterial attachment that causes swelling and inflammation of the lungs. Consequently, the patient is highly susceptible to lung infections such as pneumonia. Over time, the repeated lung infections result to an advanced symptom known as lung scarring. Evidently, the lung scarring is a natural response to the pulmonary diseases. Furthermore, with repeated lung infections, the situation deteriorates to the point of permanent lung damage (Peterson, 2002). The sweat glands of patients also excrete extremely salty sweat. In reference to the digestive system, the patients affected by cystic fibrosis exhibit malnutrition problems. These include poor weight gain, stunted growth, physical weakness, persistent hunger pangs and delayed puberty. Evidently, the malnutrition problems arise from the blockage of pancreatic ducts as a result of CF (Peterson, 2002). Consequently; secretion of digestive fluids in organs such as the intestines is inhibited. In effect, the absorption of vitamins and digestion process are hampered. To this end, the patient can suffer from continuous bouts of diarrhea. Furthermore, the stool produced has a pungent smell, bulky and greasy. In babies, the passage of black stool is a critical indicator of CF. The stunted or slow weight gain in children is primarily due to insufficient nutrient absorption by the body. Evidently, this is due to lack of digestive enzymes responsible for the absorption of proteins and fats critical for body growth. Further progression of the cystic fibrosis results to inflammation of the pancreas, also known as pancreatitis. Rectal prolapsed is another symptom characteristic of advanced CF. It is a condition whereby the inner rectal tissue moves out of the rectum due to persistent, heavy coughing or difficulties in passing of stool. In addition, the patient’s liver may be inflamed and result to liver diseases. The signs and symptoms synonymous with reproductive organs include infertility problems in males and females. To this end, infertility in men occurs due to the absence of the vas deferens among those born with CF. On the other hand, women exhibit reduced fertility due to absence or irregular menstrual cycles. Moreover, excessive and thick amounts of mucus block the cervix and reduce fertility or results into pregnancy complications. In addition, females with CF are prone to suffering from urinary incontinence. Evidently, it is a condition that results to a failure in bladder control when the patient is afflicted by persistent coughs and consequently urine leaks out of the bladder. Other significant signs and symptoms of CF include; fatigue, low blood pressure, and dehydration due to insufficient fluid. Moreover, the patient may exhibit clubbing whereby the tips of the finger and toes become wider and round. This condition arises due to insufficient oxygen movement of oxygen form the lungs to bloodstream. In addition, the patient may suffer from a condition known as osteoporosis. To this end, the condition is characterized by lwo bone density in patients. Prevalence Statistics Cystic fibrosis has been discovered to affect all sexes of the human population as well as transcending beyond ethnic and racial entities. On the other hand, cystic fibrosis is more prevalent among Caucasian people of Northern European origin. Moreover, the disease equally affects American Indians drawn from the Zuni and Pueblo descent. The Latino community is equally highly susceptible to the disease. In contrast, cystic fibrosis is less prevalent among Asian Americans and African Americans. According to statistical data, carriers of the defective CF gene are approximately 10 million in the United States (National Heart Lung and Blood Institute, 2011). Moreover, a majority of the carriers are unaware of their status. To this end, the numbers of new cases reported over the disease are approximately 1,000. Furthermore, the percentages of patients affected by the age of two are over 70%. On the other hand, patients above the age of 18 years account for 45% of the total persons infected by the disease (National Heart Lung and Blood Institute, 2011). Finally, the late 30’s has been estimated as the survival age in a person diagnosed with CF. Diagnosis and Treatment of Cystic Fibrosis The diagnostic procedure of cystic fibrosis is conducted via several tests. The newborn screening constitutes one of the tests conducted. In effect, the newborn screening is conducted by use of blood or genetic test. To this end, the blood test is indicative of the normal functioning parameters of the baby’s pancreas (Orenstein, 2004). On the other hand, the genetic tests are aimed at identifying a defective CFTR gene in the newborn. Moreover, it is vital to note that the newborn screening is mandatory in all states within U.S. After preliminary tests of the blood and genes are conducted, and both are indicative of the CF disease, then confirmation tests are done. Consequently, a sweat test is conducted to ascertain the quantity of salt available in the sweat (Orenstein, 2004). Prenatal screening is another test conducted to check on whether the fetus is infected by CF. Furthermore, CF carrier testing is done to establish if a person possesses the defective gene. This test is necessitated on the basis that carries do not exhibit any symptoms. Moreover, the test is necessary for couples planning for a pregnancy. Additional tests conducted on the patient include lung function tests and sputum culture. Evidently, the lung function tests aims at establishing the breathing rate and testing the oxygen carrying capacity of the lungs. In the case of sputum culture, the test is aimed at checking if bacteria known as mucoid Pseudomonas are present in a person’s sputum. Moreover, the sputum test aims at discovering the progression rate of the CF disease and whether more advanced treatment is necessary. It is essential to recognize that presently no cure for cystic fibrosis has been developed. However, contemporary treatment intervention plans have been increasingly developed. To this end, the treatment plans for lung complications include chest physical therapy (CPT). In effect, CPT involves repeated pounding of the patient’s chest with a device such as an electric chest slapper or the use of hands. The ultimate aim is to loosen the mucus from the patient’s lungs and consequently he or she can cough it up. Furthermore, aerobic exercises are utilized to make the patient breathe harder and loosen the mucus on the respiratory airways. Moreover, prescription medicines can be recommended for treatment. These include; mucus thinning drugs, antibiotics, bronchodilators or anti-inflamants. The primary functions of the anti-inflammatory medicines are to minimize swelling of the airways. On the other hand, antibiotics aid in the prevention or treatment of lung infections. Bronchodilators assist in the opening up of airways through relaxation of the muscles. In the case of deteriorated lung infections, oxygen therapy is recommended for treatment. Moreover, if the severity is extreme, a lung transplant is recommended. In reference to the treatment of pertinent digestive complications, nutritional therapy is recommended for treatment. To this end, the nutritional therapy encompasses well balanced diet complete with proteins, fat and high calories. Moreover, the nutritional therapy is inclusive of vitamin A, D,E and K supplements that substitute fat soluble vitamins that the patients intestines is unable to absorb. Moreover, diet that is high on salt is recommended prior to exercises. In addition, the patient is given oral pills of pancreatic enzymes. In effect, the enzymes assist in the digestion of proteins, fats and absorption of vitamins. Furthermore, the CF patient can also be provided with high calorie nutrient shakes. Conclusion Evidently, cystic fibrosis is a trans generational genetic disorder that poses adverse effects to the exocrine glands. Moreover, it has been established to be more prevalent among people of Caucasian origin. To this end, contemporary research has failed to discover for cystic fibrosis. However, research has achieved significant strides in the development of treatment interventions. Consequently, with intervention treatment such as proper nutrition, respiratory therapy and exercise offers a chance for a longer and improved quality of life for the CF patients. Reference Alma, L. (2008, June 25). Cystic Fibrosis Symptoms - What Are Cystic Fibrosis Symptoms. Cystic Fibrosis - Information About Cystic Fibrosis. Retrieved November 10, 2012, from http://cysticfibrosis.about.com/od/symptoms.htm National Heart Lung and Blood Institute. (2011, June 1). What Is Cystic Fibrosis? - NHLBI, NIH. NIH Heart, Lung and Blood Institute. Retrieved November 10, 2012, from http://www.nhlbi.nih.gov/health/health-topics/topics/cf/ Orenstein, D. M. (2004). Cystic fibrosis: a guide for patient and family (3rd ed.). Philadelphia: Lippincott Williams & Wilkins. Peterson, J. M. (2002). Cystic fibrosis. Mankato, Minn.: Life Matters. Wine, J. (2003). Cystic Fibrosis. Stanford University. Retrieved November 10, 2012, from http://www.stanford.edu/class/psych121/humangenome-CF.htm Read More