cystic fibrosis. The writer takes the reader on an exploratory journey about cystic fibrosis and its causes, treatments and future. The writer outlines many aspects of the disease including the enzyme treatments that are currently being studied. There were five sources used to complete this paper.
The medical community has made many amazing discoveries in the last few decades. People are living longer than ever before and the quality of their life has improved along with the quantity. There are many disorders and diseases that are now considered curable or manageable that were once considered fatal. Cystic Fibrosis is a disease however that has baffled the medical community for many years (Santis,2000). Locating its cause, discovering a cure and other pertinent goals have been targeted by research around the world with little success. In recent years however the genetic link and mapping of cystic fibrosis has been pursued with a measure of success and more recently genetic enzyme therapies have shown themselves to be extremely promising.
Before one can begin to examine and understand the implications and future of enzyme therapies and genetic implications one first must have an understanding of cystic fibrosis itself.
Cystic fibrosis is a life-long, hereditary disease that causes thick, sticky mucus to form in the lungs, pancreas, and other organs (Santis, 2000). In the lungs, this mucus tends to block the airways, making breathing difficult. In the pancreas, it clogs the ducts leading to the intestines, thus interfering with the digestion of fat.
It is the leading genetic killing disease in the nation with 30,000 Americans having it currently. It is not particular about gender and strikes males and females equally often. It is also not picky about what race it affects, though studies indicate that there are more white people with the disease than there are other races with it.
The disease is started at conception but it can take many years to show itself after the person is born. Out of all the people born in the United States each year with Cystic Fibrosis symptoms at birth are only present between 10 and 15% of the time.
Diagnosis is sometimes delayed for decades because of the mildness of the symptoms or a failure to recognize them.
Cystic Fibrosis is a genetic disease with nearly 12 million carriers doing the work for it in the United States alone.
In order for a child to inherit the disease both parents have to carry the gene. When both parents carry the cystic fibrosis gene there is a twenty five percent chance that the child will inherit and develop cystic fibrosis. There are documented cases where one parent has a healthy gene, which ends up dominating the defective gene, and the child lives symptom free and disease free.
There are many symptoms to the disorder depending on the severity of its infliction. Some symptoms include wheezing, coughing, and many bouts of pneumonia, salty tasting skin and clubbed fingers and toes. In addition there may be a failure to thrive and the child may lose weight even though he or she eats a balanced diet.
Testing the child for the cystic fibrosis gene and measuring the salt content o the sweat can diagnose the disorder. If it is diagnosed early treatment is the best preventive medicine for that child.
Although there is still no cure for cystic fibrosis, a variety of treatments can ease its symptoms. The options include physical or pulmonary therapy (draining of the lungs), exercises to help loosen mucus and stimulate coughing, medications such as bronchodilators to improve the passage of air into the lungs, mucus-thinning medications (called mucolytics), and antibiotics to kill infection-causing bacteria. To help make the child more comfortable, parents can learn how to perform procedures such as physiotherapy at home (Ricks, 1997)."
How is cystic fibrosis diagnosed?
In addition to a complete medical history and physical examination, diagnostic procedures for cystic fibrosis include a sweat test to measure the amount of sodium chloride (salt) present. Higher than normal amounts of sodium and chloride suggest cystic fibrosis.
Cystic fibrosis is a disease that takes the lives of the young (Ricks, 1997). To date there are only 14 people alive in the nation who are past the age of 60 with the cystic fibrosis (Ricks, 1997). "The oldest known patient is 70, according to the Cystic Fibrosis Foundation in Bethesda, Md., which maintains a national registry of patients. A research team in Iowa is running tests on a patient who is 83 and may have the disorder. Specialists say doctors need to be aware that adults who have suffered repeated bouts of pneumonia, chronic bronchitis and other lung infections may have mild cystic fibrosis (Ricks, 1997)."
These patients are the exceptions (Ricks, 1997). The disease gives the victim an average lifespan of 31 years according to experts (Ricks, 1997). It affects one in every 2,400 infants and is much more prevalent in Caucasian infants than any other race. The disease makes the body produce thick viscous fluid (Ricks, 1997). This fluid obstructs the several of the body's systems that include the lungs, the pancreas and the sweat glands (Ricks, 1997). There are also gastrointestinal tract blockages (Ricks, 1997). One of the symptoms of the disease is the salty sweat the sufferer has throughout their life (Ricks, 1997). This is caused by the disease forcing high concentrations of chloride through the system, which is excreted by sweat (Ricks, 1997). "The primary cause of death in cystic fibrosis is from lung disease (Ricks, 1997). Males with cystic fibrosis are invariably infertile because of obstructions in reproductive organs. There are a number of ways to test for the disease, doctors say, including genetic screening, which became available shortly after CFTR was discovered. Another method is measuring salt concentrations in sweat (Ricks, 1997)."
Currently it is believed that there are 30,000 people in the United States who have the disease, including 1 in every 17,000 newborn blacks and 1 in every 30,000 Asian newborns (Ricks, 1997).
Within the last decade there have been many studies about the genetics of Cystic Fibrosis (Nance, 1992). In 1989 there was an identification of the Cystic Fibrosis gene. It was discovered shortly thereafter that the gene had approximately 700 different mutations (Nance, 1992). When the gene was discovered the experts began to recommend that all family members of victims of CF receive testing to determine whether or not they were carriers (Nance, 1992). "A single mutation, denoted DeltaF508, is found in approximately 70% of carriers of European ancestry. Currently, over 160 other mutations have been identified (Nance, 1992). Many of these are extremely rare, but a few reach frequencies of 1% -3% of CF carriers. Current surveys indicate that 85%-90% of CF carriers in the North American white population can be detected by testing for 6-12 mutations (Nance, 1992). The detection rate is even higher in some populations (e.g., Ashkenazi Jews) but is substantially lower in blacks, Hispanics, and Asians. In view of this mutational heterogeneity, it is unlikely that DNA-based CF carrier detection rates will exceed 95% in the foreseeable future (Nance, 1992). "
The recommendations regarding the disease are currently as follows (Nance, 1992):
Although the sensitivity of carrier testing for CF has improved and pilot studies are under way, CF testing is not recommended, at this time, for individuals or couples who do not have a family history of CF (Nance, 1992).
Individuals with a positive family history of CF or who have a blood relative identified as a CF carrier should be offered CF testing with appropriate education and counseling. Optimally, carrier testing should be offered prior to conception, to provide a couple the broadest range of reproductive options (Nance, 1992).
When indicated, CF counseling and testing should adhere to the following guidelines (Nance, 1992):
Screening should be voluntary, and confidentiality must be ensured (Nance, 1992).
Screening requires informed consent. Pretest education should explain the benefits and hazards (e.g., stigmatization and possible loss of insurability) (Nance, 1992).
Providers of screening services have the obligation to ensure that adequate posttest counseling is provided (Nance, 1992).
Quality control of all aspects of laboratory testing, including systematic proficiency testing, is required.
As with all indicated health-care services, there should be equal access to testing (Nance, 1992).
Efforts should be expanded to educate health-care providers and the public, regarding the complexities of CF screening in particular and issues involved in genetic health-care services in general (Nance, 1992).
With the newly discovered genetic mapping of the disease the medical community began to move quickly in the direction of new therapies to treat the disease with. (Cooke, 1993). There have been discoveries and encouragements along the way (Cooke, 1993). One of the discoveries was that there are people with the CF gene and diseases who have what appears to be a mild case (Cooke, 1993). The genetic recognition of the disease opened the door to many possibilities of therapies and treatments for those who suffer its consequences (Cooke, 1993). Once the…