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1. Cystic Fibrosis
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case study on Cystic Fibrosis

... She was diagnosed with cystic fibrosis (see appendix) via a sweat test (see appendix) at 2 days old. ... Miss X’s mother is concerned with Miss X’s health status and is quite interested in a new cystic fibrosis drug called Pulmozyme (see appendix).

Anatomy and Physiology
Cystic Fibrosis has a considerable affect on Miss X’s body. ... Cystic fibrosis causes a mucous build up in the lungs which affects respiration and blocks airways, leading to ineffective respiration. ...

Pathophysiology
Cystic fibrosis is a genetic (see appendix) disease which affects young children, the mortality rate is high and the life expectancy on average is thirty years old It is caused by a genetic defect passed on by parents who may be unaffected by the illness themselves. ...
Cystic fibrosis is a result from a mutation of the gene situated on chromosome 7. ... The exocrine gland ducts get clogged with a thick secretion and fibrosis occurs. ... Males with cystic fibrosis will most likely be sterile (see appendix). ...

Signs and symptoms
A variety of symptoms occur to people suffering from cystic fibrosis, and may be different in type and extent for each person efftected. ... Normal newborns first stool is a green, sticky substance made up of cellular residue, mucous and bile pigments which is normally excreted in the first few days, In this case her illium was blocked because the meconium was thicker. ... Excessive sodium and chloride produced in the sweat glands is the most commonly experienced problem with cystic fibrosis and was valuable for diagnosis. ...
Although Miss X is not affected, cystic fibrosis may have an impact on heart rhythms. ... About 2 to 3 percent of people with cystic fibrosis develp insulin-dependent diabetes because the scarred pancreas can no longer produce enough insulin (Unknown Author 1, 2003). ... These are commonly found in results of people suffering from cystic fibrosis. ...
The sweat test is the standard test for diagnosing Cystic Fibrosis, it also gives the most accurate result. Miss X was tested positive for cystic fibrosis at 2 days old when she had this test. ... High levels of sweat point toward cystic fibrosis. ...      
In the case of newborns who do not produce much sweat this test may not work as effectively, and another test may be used for instance immunoreative trypsinogen test. ... In some cases when the person with cystic fibrosis has normal sweat chloride levels other tests are performed to determine whether the person is carrying the mutated gene.
Other tests which may help diagnose are chest xrays, lung function tests, sputum cultures (see appendix) and stool examinations to identify digestive abnormalities typical of Cystic Fibrosis. (Unknown author 2, 2003)

Treatment
The goal of the treatment of cystic fibrosis is to slow progress and ease the symptoms to ensure that Miss X can experience the highest quality of life available for her. Gene therapy can be used to prevent or cure cystic fibrosis but it must be done while the child is still young. ... But the most common form of effective treatment for cystic fibrosis is antibiotic therapy. ...
The biggest problem experienced with cystic fibrosis is in the lungs. ...


Medications
Miss X has taken a variety of drugs to treat cystic fibrosis and the infections caused by it. ... It may also help break the cycle of cystic fibrosis progression (Unknown author 3, 2003). ... It is used to help manage the symptoms experienced by cystic fibrosis. ... She was diagnosed with cystic fibrosis (see appendix) via a sweat test (see appendix) at 2 days old. ... Miss X’s mother is concerned with Miss X’s health status and is quite interested in a new cystic fibrosis drug called Pulmozyme (see appendix).

Anatomy and Physiology
Cystic Fibrosis has a considerable affect on Miss X’s body. ... Cystic fibrosis causes a mucous build up in the lungs which affects respiration and blocks airways, leading to ineffective respiration. ...

Pathophysiology
Cystic fibrosis is a genetic (see appendix) disease which affects young children, the mortality rate is high and the life expectancy on average is thirty years old It is caused by a genetic defect passed on by parents who may be unaffected by the illness themselves. ...
Cystic fibrosis is a result from a mutation of the gene situated on chromosome 7. ... The exocrine gland ducts get clogged with a thick secretion and fibrosis occurs. ... Males with cystic fibrosis will most likely be sterile (see appendix). ...

Signs and symptoms
A variety of symptoms occur to people suffering from cystic fibrosis, and may be different in type and extent for each person efftected. ... Normal newborns first stool is a green, sticky substance made up of cellular residue, mucous and bile pigments which is normally excreted in the first few days, In this case her illium was blocked because the meconium was thicker. ... Excessive sodium and chloride produced in the sweat glands is the most commonly experienced problem with cystic fibrosis and was valuable for diagnosis. ...
Although Miss X is not affected, cystic fibrosis may have an impact on heart rhythms. ... About 2 to 3 percent of people with cystic fibrosis develp insulin-dependent diabetes because the scarred pancreas can no longer produce enough insulin (Unknown Author 1, 2003). ... These are commonly found in results of people suffering from cystic fibrosis. ...
The sweat test is the standard test for diagnosing Cystic Fibrosis, it also gives the most accurate result. Miss X was tested positive for cystic fibrosis at 2 days old when she had this test. ... High levels of sweat point toward cystic fibrosis. ...      
In the case of newborns who do not produce much sweat this test may not work as effectively, and another test may be used for instance immunoreative trypsinogen test. ... In some cases when the person with cystic fibrosis has normal sweat chloride levels other tests are performed to determine whether the person is carrying the mutated gene.
Other tests which may help diagnose are chest xrays, lung function tests, sputum cultures (see appendix) and stool examinations to identify digestive abnormalities typical of Cystic Fibrosis. (Unknown author 2, 2003)

Treatment
The goal of the treatment of cystic fibrosis is to slow progress and ease the symptoms to ensure that Miss X can experience the highest quality of life available for her. Gene therapy can be used to prevent or cure cystic fibrosis but it must be done while the child is still young.


Approximate Word count = 5180
Approximate Pages = 20.7
(250 words per page double spaced)
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