Patients with cystic fibrosis are subjected to medical imaging examination as it helps in monitoring the disease pathologic changes. Cystic fibrosis patients are more likely to develop thoracic, digestive tract, kidney and thyroid cancer because of they are exposed to ionizing radiation (Jones & Helm, 2009)
Other method used is sinus imaging that is used to ascertain degree of sinus impairment. Computed tomography helps in displaying subtle changes and localized disease (Rossi & Owens, 2005)
The disease results after the fibrosis transmembrane conductance regulator (CFTR) gene that is found on chromosome 7 has undergone some sort of mutation. Mutation on chromosome 7 alters the production and function of CFTR glycoprotein (Scott, 2013)
Twenty percent of infants with cystic fibrosis develop this kind of obstruction. Patients with cystic fibrosis also experience chronic cough, frequent and foul smelling stools, and persistent upper respiratory infections (Starner & McCray, 2005)
Neonatal screening could not be attributed to improvement in long-term survival when compared with diagnosis by symptoms in early infancy. (Assael, et al
Etiology More than 1000 potential changes can occur in CFTR, the gene associated with cystic fibrosis to result in cystic fibrosis however, it is reported that approximately 70% of patients with CF have the same defect or "F508" which is reported as a "deletion of 3 bases that causes the loss of the protein phenylaline." (Grossman and Grossman, 2005) Patients with a complete loss of the CFTR gene are stated to have a clinical phenotype representative of pancreatic disease, severe pulmonary disease, gastrointestinal problems, and interfiling in men with women having fertility problems
" Diagnosis In the past 10 years there have been a number of advances in the diagnosis of cystic fibrosis due to research in molecular biology and genetics. Early diagnosis "of the disease not only can lead to the most appropriate medical management of the patient but also allows for genetic counseling and pulmonary surveillance (Andolsek)
Chronic infections lead to respiratory failure - typically caused by the usually harmless bacterium called Pseudomonas aeruginosa - which kills most people with cystic fibrosis while they are in their 20s or early 30s. This suggests that either the lungs of cystic fibrosis patients are particularly hospitable to bacteria or normal defenses against infection are somehow weakened (Damaris)
The principal treatments for cystic fibrosis sufferers are "antibiotic therapy for pulmonary exacerbations, and chronic suppressive therapy, airway clearance and exercise, therapy with mucolytic agents, bronchodilators, and anti-inflammatory agents, supplemental oxygen, and nutritional support, which are similar for children and adults. Because of the potential complexity, all aspects of the medical regimen should be reviewed on a regular basis with an assessment of adherence and potential side effects from medications (David)
Cystic fibrosis is a "recessive disorder common among Caucasians. Although the disease was known in the 1930's, it was only in the late 1980's that the molecular mechanisms about its development were established (Tsui)
Furthermore, whether the heterozygous state of CF mutations predisposes to abnormalities such as chronic bronchial hypersecretion, airway hyperreactivity or infertility can now be more thoroughly addressed." (Davis, 17) These factors are not just improving our understanding of what may cause cystic fibrosis, but it has also allowed us to pinpoint some strategies for controlling a condition that only 25 years ago, was seen as a pre-adulthood death sentence
As the study denotes, "approximately 70% of the mutations in cystic fibrosis patients correspond to a specific deletion of three base pairs, which results in the loss of a phenylalanine residue at amino acid position 508 of the putative product of the cystic fibrosis gene." (Karem et al
It is felt that with early identification and treatment, improvements in nutritional and respiratory outcomes may appear. However, although the intent behind newborn screenings is beneficial, it can have unintended disastrous results, including "the issue of false-positive and false-negative results, misconceptions and miscommunication of results, and potential stigmatization" (Baroni, 1997)
By 1996, this procedure was perfected and had been performed in a few hundred people with CF. Because of the difficulty and expense in caring for someone who has had a transplant, however, some feel that getting a transplant is "much like trading one disease for another" (Orenstein, 1997)
The test works by pharmacologically stimulating localized sweating and then collecting the amount of sweat secreted; measurements of electrolytes are determined and NA or Cl values > 60 mEq/L confirms the diagnosis given a suggestive clinical picture or positive family history. It is estimated that less than 1:1000 patients with CF will have a sweat chloride less than 50 mEq/L (Phillips, 2002)
[it] is demonstrated in the nurse-client relationship, in which empathy and transpersonal caring predominate. Caring and curing are now meshing as healing forces (Tracy, 1997)
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include ...
More than 30,000 people in the U.S. live with cystic fibrosis (CF.) Doctors diagnose about 1,000 new cases each year. CF affects the cells in your body that make ...
Cystic fibrosis — Learn about the causes, symptoms and treatment of this inherited condition that causes severe damage to the lungs and digestive system.
Cystic Fibrosis Foundation: We will not rest until we find a cure for all people with CF.