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How are persons with this disorder affected by it??  What can or can’t their bodies do??Cystic Fibrosis affects the respiratory and digestive systems. They can do anything that their body will allow them to do. Basically they just sweat a lot and they need to wear a vibrating vest or have their back pounded to loosen the mucous.

What are the symptoms of  Cystic Fibrosis and when do they begin to appear??Some symptoms include, coughing or wheezing, weight loss, salty-tasting skin, respiratory illnesses (such as pneumonia or bronchitis).

What is the life expectancy for someone with Cystic Fibrosis??Most victims of this disorder only live to a=be about 30 years old due to the clogged and infected lung cells.

What is the frequency of Cystic Fibrosis or how common is it??About 2,500 babies are born with cystic fibrosis in the U.S. each year.  Plus, more than 10 million Americans carry the cystic fibrosis gene but don’t know it.

Are some populations or races more prone to having Cystic Fibrosis?? No, it has not been found to be more common among certain races or nationalities.

Can Cystic fibrosis be diagnosed without genetic screening?? Yes, there are several tests for diagnosing cystic fibrosis. Some include a sweat test and a chest x-ray, and lung function tests.

Is there currently available treatment of therapy for Cystic Fibrosis??  What are the costs and/or inconveniences involved in the treatment available?? There is no cure for cystic fibrosis, however, there are a few treatments available. Most treatments work by clearing mucous from the lungs and preventing lung infections.  Some of the most common include, chest physical therapy (clap on back to loosen mucous), inhaled antibiotics (kills bacteria that cause lung infections), bronchodilators (help keep airways open), pancreatic enzyme replacement (Allows proper food digestion), and gene therapy ~still in trials~ (healthy CFTR genes are inserted into lung cells of patients to correct the defective gene).

What is the outcome without genetic screening and treatment? There will still be treatments available. The only difference is that there will not be any warning to the parents.

When and how are individuals screened for this genetic disorder?? They can be screened with genetic screening or with many other tests such as, chest x-ray, sweat tests, and lung function testing.

What is the genetic cause of Cystic Fibrosis??

  • What is the inheritance pattern? If both parents give off the trait then the child will be positive, if only one parent gives off the trait the child will only be a carrier of cystic fibrosis. The carrier can still give gene to offspring.
  • What specific chromosome is affected? Chromosome 7
  • What is the specific name of the defected gene? CTFR gene. (cystic fibrosis transmembrane conductance regulator)
  • What specific protein is affected? The protein that normally  helps sodium chloride (salt) move in and out of cells.

Karyotype of cystic Fibrosis: It is affected in the CTFR gene of the 7th chromosome. You are not able to tell it is affected or not by the karyotype.

What body systems are affected by cystic fibrosis?? The parts of the body most affected by cystic fibrosis are the sweat glands, respiratory system, digestive system and reproductive system. Cystic fibrosis does not, however, effect the brain and nervous system. A child’s ability to learn is not altered by having cystic fibrosis.

How do these systems function in the body normally? If you are hot, you sweat, if you have mucous in your lungs, you are able to cough to get it out.  However, people with cystic fibrosis need to take medications to keep their sweat glands from over-reacting.

What specific organs make the systems that are affected by cystic fibrosis? The lungs and being able to breath because these people are not able to get the mocous out of their lungs.

What roles do they have? The lungs make you breath to be able to stay alive.

How does cystic fibrosis affect organ function and disrupt homeostasis? Cystic fibrosis affects homeostasis because people with this genetic disorder tend to sweat more then average.

References:learn.genetics.utah.edu/content/disorders/whataregd

http://learn.genetics.utah.edu/content/disorders/whataregd/cf/index.html

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