Diagnosis+&+Treatment

== ====There are several ways to determine if an individual has Cystic Fibrosis. This can be done through genetic, blood, and sweat testing. Details about these processes are described below. ====

**Prenatal **
====Genes for the cystic fibrosis transmembrane conductance regulator can now be screened to identify if the parent has the potential to pass down the mutation. If the mother is found to be a carrier, the child would have a fifty percent chance to become a carrier for the disease. The father would then be tested to determine if he is a carrier as well. If he is a carrier, then the child would have the ability to develop cystic fibrosis by inheriting two recessive alleles of the CFTR gene. ====

**Newborn **
====Genetic testing can also be done in the same fashion as stated above to determine if the child has the potential to develop cystic fibrosis. Blood sample are taken from every newborn to test for a variety of illnesses and cystic fibrosis is part of the mandatory screening. ====

**Sweat Test **
====In cystic fibrosis, the CFTR chloride channel is faulty which inhibits chloride to be reabsorbed into sweat duct cells. Since this reabsorbtion does not occur, it is secreted in the sweat in higher levels than normal. Sweat tests are usually conducted on the forearm or thigh. Sweat is collected on a filter paper or guaze and is tested for chloride concentration. A chloride concentration of more than sixty millimoles per liter is indicative of cystic fibrosis (John Hopkins Medicine, 2006). ====


 * = **Chloride Concentration **
 * (mmol/Liter) ** ||= **Result ** ||
 * Less than 40 || Normal ||
 * 40-60 mmol/L || Inconclusive ||
 * More than 60 || Abnormal ||

=<span style="font-family: Verdana,Geneva,sans-serif;">Treatment =

**Physical Therapy**
====<span style="font-family: Verdana,Geneva,sans-serif;">Physical therapy is used to dislodge mucus from the lungs which will be expelled by coughing. This can be done by several different methods (DHHS, 2011) ====
 * ====<span style="font-family: Verdana,Geneva,sans-serif;">Exercise will help build chest muscles and make your lungs work harder to improve breathing ====
 * ====<span style="font-family: Verdana,Geneva,sans-serif;">Pounding in the chest and back area to loosen the mucus ====
 * ====<span style="font-family: Verdana,Geneva,sans-serif;">An electric chest clapper repeatedly pounds chest to free mucus ====
 * ====<span style="font-family: Verdana,Geneva,sans-serif;">A vest which uses high frequency airwaves to force mucus lower in the lungs up so it can be expelled. ====

**<span style="font-family: Verdana,Geneva,sans-serif;">Medicine **

 * ====<span style="font-family: Verdana,Geneva,sans-serif;">Antibiotics - Used to treat lung infections. Can come in topical, oral, inhaled, or IV form ====
 * ====<span style="font-family: Verdana,Geneva,sans-serif;">Bronchodilators - Such as the basic asthma inhaler, these will help open the airway by relaxing the muscles surrounding the lungs ====
 * ====<span style="font-family: Verdana,Geneva,sans-serif;">Mucus thinning medicines - Just as you may think, these medicines make the mucus less sticky so it is easier to be coughed up ====

**<span style="font-family: Verdana,Geneva,sans-serif;">Gene Therapy **
====<span style="font-family: Verdana,Geneva,sans-serif;">Gene therapy is understood by scientists to have the greatest potential for cure. This is because the lungs are the major area of pathology, which is accessible for treatment and the disease is a single, recessive gene disorder meaning that dosage effects may not be vital because heterozygous individuals have the functional CFTR protein. Lastly, infants who have the disease don’t display effects until later on in life, allowing a timeframe for intervention (Lee, et. al, 2005). ====

====<span style="font-family: Verdana,Geneva,sans-serif;">Gene therapy can be delivered by an adenovirus which may correct the CFTR gene mutation. An adenovirus is prepared by inserting the corrected CFTR gene into the viral genome. This would infect the cells within the lung, leaving the corrected gene in those penetrated cells which would then be translated into the normal CFTR protein (Palca, 1994). This virus could be transferred to the affected individual by means of injection, inhalation mist, or even a drip that would come in direct contact with the lung tissue. ====

====<span style="font-family: Verdana,Geneva,sans-serif; font-size: 14px;">A trial using the adenovirus vectors was conducted in 2004 but produced minimal results. There was an increase in CFTR protein expression initially but was completely undetectable after 43 days (Lee, et al., 2005). Clinical trials of gene therapy for cystic fibrosis have shown that there is success in the theory but gene expression has been too low for it to be considered helpful at this point in time. ====

<span style="font-family: Verdana,Geneva,sans-serif;">Genomics Research >>

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