Cystic Fibrosis Paper
Cystic Fibrosis Paper
Cystic fibrosis is one of the leading genetic disorders in the world. Commonly referred to as CF, it is majorly prevalent among people with European decency and less common among Africans and Asians. CF is an autosomal recessive genetic disease caused by a variation in the CFTR gene which works to program the production of a protein CFTR. It primarily affects the lungs and the digestive system resulting in difficulties in breathing and impaired digestion. Patients tend to have salty skin and generally a poor growth rate.
The Phenotype of Cystic Fibrosis
During and before the 1940s, many people suffering from CF barely survived one year due to exocrine pancreatic insufficiency (EPI). EPI is a malfunction disorder of the pancreas caused directly by CF, where the pancreas is unable to secrete juices necessary for the digestion of food. People, therefore, died due to insufficient nutrients in the body. EPI is still fatal in CF patients who are not diagnosed at an early stage. Today, the survival rate of CF patients has increased from less than a decade in the 1940s to 36.2 years.
Cystic fibrosis affects the lungs leading to the manifestation of pulmonary diseases (Flume et al.). Although the severity of the lung disease varies in CF patients, it causes 90% of all deaths among people suffering from this disease. Pulmonary infections are mainly fungal, bacterial, or both such as rhinosinusitis and nasal polyposis.
In addition, gastrointestinal diseases are common among CF patients. Apart from EPI, patients have been revealed to be at risk of liver diseases. Hepatic diseases cause 2% of the total CF deaths with major maladies being a hepatobiliary disease, liver cirrhosis, and hypertension. Moreover, 15% of CF patients have been observed to develop intestinal obstruction (Flume et al.). Neonates mainly suffer from meconium ileus (MI) whereas children above the age of 7 years and adults are likely to suffer from distal intestinal obstruction syndrome (DIOS). However, the latter is more prevalent as compared to MI.
Clinical Manifestations
Multiple organ symptoms characterize cystic fibrosis. Since the disease mainly affects the respiratory and digestive systems, most of the symptoms are exhibited there. At birth, the lungs are healthy, but the lower airways are shortly infested with bacteria Staphylococcus aureus and Haemophilus influenza as well as other gram-negative pathogens. Pathogen infestation leads to inflammation of the airways and the onset of diseases such as bronchiectasis, hemoptysis, pneumothorax, and allergic bronchopulmonary aspergillosis (Flume et al.). Antibiotics are actively used against most pathogens, and the effect is the onset of yet another set of attacks by other microorganisms, particularly Burkholderia cepacia complex, Stenotrophomonas maltophilia, Achromobacter xylosidans and Pandoria apiospermum (Flume et al.). Lung inflammation may ultimately lead to death if a lung transplant is not done early.
Apart from lung diseases, CF patients are likely to exhibit symptoms associated with malnutrition. Malabsorption of nutrients may be caused by pancreatic disease, coeliac disease, and inflammation of the bowel. Additionally, CF patients are characterized by impaired absorption of fats along the gut leading to DIOS. Other gastrointestinal disorders associated with CF are liver cirrhosis, hypertension, cow’s milk protein intolerance, and Crohn’s disease among others.
As the patient reaches 40 years, more symptoms manifest. Older patients may have CF-related diabetes, bone fractures, and brain strain from stress, especially in women.
History of Cystic Fibrosis
Early doctrines suggest that cystic fibrosis must have been existing as early as the years before Christ. In European literature written in the 18th, the author warns people that children who taste salty on their cheeks are cursed and that they deserve to die. However, in 1938, Dorothy Hansine Andersen made an elaborate study connecting pancreatic disorders with those of the lungs and gastrointestinal. In her research, Andersen theorizes that CF is a recessive gene disease (Flume et al.). Additionally, she is the first person to use pancreatic enzymes to treat pancreatic disease among children.
Following the discovery and descriptive work done by Andersen, immense work started. In particular, in 1985, Hans Eiberg linked CF with the paraoxonase enzyme polymorphism (PON) marker. In the same year, Tsui et al. while working on genetic diseases revealed the same tag but were unable to find its exact location. In 1988, Tsui et al. discovered the first mutation in cystic fibrosis; and the variation was for CFTR?F508 (Ramsey et al. 2011). It is a deletion mutation at position 508 and 507 genes on the seventh chromosome of the CFTR.
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Nowadays, extensive research is being conducted to find a cure for the disease. Gene therapy has been speculated to be the most promising solution. In the gene therapy technique, researchers are seeking appropriate ways of replacing the affected gene with a normal one. The method is suitable for curing CF because this malady is a single-gene disease, and carriers are regular suggesting that the condition is not a wild one. In addition, the disease mainly targets the airways which are easily accessible. Moreover, newborns have normal airways, hence creating an opportunity for prevention and cure.
In cystic fibrosis of the lungs, normal genes of CFTR were transferred to replace the unusual ones. The underlying challenge is that the number of molecular CFTR mRNA is significantly low, thus insensitive to express more of the gene. Additionally, the mucociliary escalator along the airways detects foreign particles leading to excess production of mucus that may result in the blockage of the path. However, researchers have made significant progress in trial stages leaving hope of developing a treatment for this disease.
The Genotype of Cystic Fibrosis
CF is an autosomal recessive genetic disease caused by a variation in the CFTR gene which works to program the production of a protein CFTR (Ramsey et al. 2011). CFTR protein channels across epithelial cells that produce saliva, mucus, digestive juices, and enzymes. Additionally, the protein channel is essential in the movement of chloride ions in and out of the cells. A balance in the number of negatively charged chloride ions in the cells is necessary for the production of thin mucus for the lubrication of airways, joints, and other body parts.
The mutation is chromosomal and it takes place in the 7th of the 23 chromosomes an individual inherits from parents (Ramsey et al. 2011). When two dormant heterozygous parents produce offspring, there is a possibility of the child inheriting two abnormal genes. The combination of two abnormal CFTR genes renders the child a CF patient. If only one abnormal gene is passed to the offspring, the child becomes a carrier as the other one (normal CFTR gene) will encode proper production of the proteins.
Cystic fibrosis has an autosomal recessive model of passage from parents to offspring (Ramsey et al. 2011). It implies that CF cannot be inherited solely from a single parent; the genes have to be from both parents (two alleles have to be inherited from both parents). Where only a single gene is passed to the offspring, the child becomes a carrier. Carriers do not show phenotypic signs of cystic fibrosis as the unaltered inheritable factor will functionally overcome the abnormal one.
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In the past, children suffering from CF barely passed the age of five. However, the patients currently have an average life age of 36.2 implying that there is an evolutionary advantage on the gene that causes CF. This advantage is, however, a complex subject since scientists have still been experimenting with its possibility.
Effect of Cystic Fibrosis on Patient and Society
The treatment cost of CF is considerably high. The disease, therefore, has a negative economic impact both on the patient and on the family. Patients who have received education and are employed may be forced to abandon their jobs and rely on pension schemes as the disease will reduce their productivity. In case the symptoms are seen early in children, much care will be needed. Parents, especially the mother, may be forced to abandon their careers to pay attention to their ailing child.
In a YouTube video where a lady describes her life as a CF patient, she emphasizes the continuous treatment which is expensive (“Cystic Fibrosis Interview”). Additionally, being on constant medication is “boring” as she explains it.
Disease Treatment
The basic test for CF is the sweat test. A suspected patient is electrically triggered to produce sweat which is collected by a lab technician for analysis (Ramsey et al. 2011). In the investigation, the level of chloride ions is checked and when found beyond the norm, the person is likely to be suffering from the disease. Although the test is not accurate, it provides the basis of a series of tests to confirm the condition.
There is no actual treatment for cystic fibrosis. Alternatively, physicians prescribe medication that prevents the progression of the disease. Since the disorder is characterized by the secretion of thick mucus in the lungs and the digestive system, patients are advised continuously to have regular exercise to loosen the mucus. Additionally, they may take inhalers and nebulizers to clear the airways. Pancreatic enzymes have also been given to patients to aid in food digestion. Currently, Ivacaftor (VX-770) is medication at its 24th trial week (Ramsey et al. 2011). It is speculated to heal CF, particularly that of a G551D mutation. Moreover, a biotechnological technique known as gene therapy where a normal one replaces an abnormal CFTR allele is still under study by researchers.
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