Cystic Fibrosis Research Paper

Cystic fibrosis is a chronic lung disorder caused by an autosomal recessive multiorgan disorder. The disorder is due to an exocrine gland dysfunction. The deficiency in chloride flow and increase sodium absorption results in thick sticky mucous that clogs the lungs and obstruct glands The pancreas obstruction leads to the failure of secretion of enzymes. The chronic lung disorder is prevalent amongst Caucasians. “Cystic fibrosis occurs in one of 2,5000Caucasians,approximately 30,000 individuals most are diagnosed by six months of age a are living in the United States”(DNA Testing In Prenatal Case, Cystic FIbrosishttp://www.ncbi.nlm.nih.gov/ pmc/articles/PMC1200714/). “12 million more Americans are carriers but not affected by it”(Plain patient
education http://www.nlm.nih.gov/medlineplus/n tutorials/cysticfibrosis/id289105.pdf) Cystic fibrosis is considered one of the most common life-shortening inherited diseases. It is a fatal disease with an average expected life expectancy of 30 years old. Due to the rise in cystic fibrosis cases major development in research of the etiology, pathophysiology, risk factors, genetic testing, diagnosing, monitoring, treatment and management.

Cystic fibrosis is due to a mutation in the cystic fibrosis transmemebrane conductance regulator gene (CFTR).
The gene is found on chromosome 7, and controls the secretion of chloride, sodium, and bicarbonate ions across the epithelium tissues. The gene is required to regulate the components of sweat, digestive juices, and mucous. The product of the gene is a halide anion channel that contains two ATP-hydrolyzing domains, which allows protein to be used as energy in the form of ATP. Only one normally functioning gene is required to prevent cystic fibrosis. The disorder develops when neither of the two genes works appropriately. This malfunction of the gene is why cystic fibrosis is considered an autosomal recessive disease. If both parents are carriers, each parent can pass on the dysfunction copy or the normal copy to their children. Children who inherit two dysfunctional copies of the CFTR gene are affected and have the disease cystic fibrosis. There are multiple theories of why the mutation occurs. For an example F508 creates a protein that doesn’t fold normally and is disregarded by the cell. If the proteins are not the correct size the production is ended abruptly. Mutations also lead to fewer copies of the CTFR gene production. When the gene doesn’t work, chloride and thiocynate are trapped inside the cells in the airway and outside the skin. Chloride is negatively charged, positive charged cations cross into the cell. Sodium is the extracellular space cation and the
combination of chloride and sodium create salt that is lost in high amounts in the sweat. The loss of salt forms the basis of the sweat test exam.

The primary risk factor for the development of cystic fibrosis is family history. A child born to parents who are both carriers has a 25% chance of contracting the disorder and a 50% chance of being carrier themselves ( www.lung.org/assets/documents/publications/solddc-chapters/cf.pdf).Included in a mother’s prenatal care cystic fibrosis can be diagnosed during pregnancy by genetic testing of both parents, in New York a newborn screening of all genetic disorders include cystic fibrosis and a sweat test can be used in early child hood. Couples who are planning pregnancy can be tested for the CTFR gene mutations. The American College of Obstrecians and Gynecologists (ACOG) recommend testing for couples that have a family history, are carriers and of Caucasian background. Testing analyzes the plasma for the mutation such as F508; they screen up to 32 mutations. Another options of screening for cystic fibrosis is thru invitro fertilization. This process allows for the screening of the embryo three days after fertilization, for the presence of abnormal cystic fibrosis genes. During pregnancy a mother can be tested by the use of her placenta. The chorionic villus sampling that uses a transcervical approach through your cervix or trans abdominal to remove and test for chorionic villus cells on the placenta. An amniocentesis can be performed to test for the detection of cystic fibrosis genes in the amniotic fluid. Couples also can opt for third party reproduction with egg or sperm donors. The newborn screen measures for raised blood concentration of immunoreactive tryspinogen. Infants with an abnormal screen need a sweat test to confirm the diagnosis. Often times the parents can make the diagnosis by recognizing the salty taste to the skin. Sweat testing includes the use of a medication such as pilocarpine to stimulate sweat. Electrodes are used for the application of the medication and the sweat is collected on paper and analyzed for abnormal amounts of sodium and chloride. If the range of concentration is between a 40mmo/l it is suggestive and repeated greater then 60 mmo/l is a confirmed diagnosis.

Major clinical manifestation of cystic fibrosis include meconium illeus. This is an obstruction of the bowel caused by thick, abnormal meconium. It is suspected if the baby fails to pass the first stool .They develop bowel obstruction and present with abdominal distention and vomiting. Treatment needs to initiate immediately to prevent complications of the babies bowel. It can be treated with enemas or in severe cases surgery. The newborn will also be presented with anterior to posterior diameter increase, clubbing, wheezing, cough, fatty foul smelling stools, blood tinged sputum, recurrent respiratory infections, hypoxia and failure to thrive. Most infants will be underweight and underdeveloped. Cystic fibrosis causes obstruction to the pancreatic secretion of enzymes. Treatment is by replacements of missing digestive enzymes. Replacement allows for absorption of vitamins and nutrients by the duodenum. The chronic lung disorder causes a deficiency of fat-soluble vitamins; additional replacement is required. A non- pulmonary complication of cystic fibrosis is Diabetes. Diabetes related cystic fibrosis is characterized by signs and symptoms of Type I and Type II diabetes. Treatment that is being used is insulin injections and dietary management. Failure to thrive can be managed by insertion of a gastronomy tube or Ng tube placement into the stomach for additional feedings. The presentation of signs and symptoms and development are variable respiratory infections are major complications of the disease. A cystic fibrosis patient that develops respiratory infections requires hospitalization. They are placed in a single respiratory isolation rooms to prevent the spread of infections.
.Respiratory assessment and airway stabilization is vital within the care of the patient. Medications administration is dependent on the cause of infection. Normally prescribed medications are bronchodilators, nebulizer treatment, hypertonic saline, corticosteroids, Oxygen supplemental therapy, and Iv antibiotics. Nursing interventions included Chest physiotherapy, deep breathing and coughing therapy infection prevention, monitor vital signs and include dietary requirements. The final remedy of the treatment of cystic fibrosis is lung transplantation. This is only deemed necessary if lung and exercise function decline. It is considered the last resort used only when assistance from mechanical device is necessary and patient’s survival is threatened. Bilaterally both lungs are removed and replaced. Also in some cases the pancreas can be removed as well to alleviate the diabetic conditions.

Cystic Fibrosis is a chronic condition lasting a lifetime.
There is no prescribed treatment to eradicate the condition but prevention of respiratory infections, malabsorption problems and maintaining good nutrition and an active lifestyle can aid individuals in living a sustainable life. The goal for all patients should be maintaining their quality of life. Since the condition is diagnosed before birth parent teaching is vital in managing cystic fibrosis. Education on medication regimen of bronchodilators, nebulizer treatments and all respiratory treatments. Administer pancreatic enzymes before all meals and snacks. Fat-soluble vitamins replacement. Identifying the signs and symptoms of infection is important; monitoring their vital signs, temperature, listening to their chest, nasal flairing, chest retraction, cyanosis color, persistent cough and wheezing. All abnormal symptoms are to be notified to the physician and child should be brought in for further evaluation. As adolescents the cystic fibrosis patient should engage in sports, activities, avoidance of drugs, smoking and alcohol. Encourage all women with the disorder to participate in genetic testing. The prognosis of Cystic fibrosis has improved. For an example the U.S Cystic Fibrosis Foundation Complies that in 2008 the life expectancy has improved to 37.4 years old and 240 American with cystic fibrosis were able to become pregnant. The Priority Nursing Diagnosis’s are: Ineffective airway clearance related to
excess tenacious mucus secondary to Cystic fibrosis. Imbalanced Nutrition: Less than bodily requirements related to failure to thrive secondary to cystic fibrosis.

References

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Hazel, L., & George, C. (2010). Cystic fibrosis foundation . AJN, American Journal of Nursing:, 110(12), 10-14. doi: 10.1097/01.NAJ.0000391218.79458.3b
Doring, G., Flume, P., Heijerman, H., & Heijerman, H. (2011). Treatment of lung infection in

patients with cystic fibrosis: Current and future strategies. Journal of Cystic Fibrosis,

11(6), 461-479. doi: 10.1016/j.jcf.2012.10.004

Cystic Fibrosis Foundation.(2010, January 11) About Cystic Fibrosis: What You Need to Know. Retrieved From http://www.cff.org/AboutCF/

Dugdale, D. (2012, May 29). Cystic fibrosis. Retrieved from ttp://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167

Cystic Fibrosis Nur-349-06

Vanessa Delorme