Cystic Fibrosis


Description:
Cystic Fibrosis is a common recessive genetic disease. Cystic Fibrosis affects the entire body, causing progressive disability and often young death. The person who has Cystic Fibrosis is extremely difficult for them to breathe. This disease can not be cured but gets treated by antibiotics. Cystic Fibrosis is caused by a mutation in the gene for the protein cystic fibrosis Trans membrane conductance regulator.


Inheritance:

Cystic Fibrosis is an autosomal recessive pattern. Each parent carrier’s one copy of the mutated gene. Cystic Fibrosis has no signs of the condition. Both of the CF genes are mutations. Cystic Fibrosis occurs in 1 in 2,500 to 3,600 Caucasian new bourns. Children with Cystic Fibrosis have very thick, sticky mucous and extremely salty sweat. Each person who has Cystic Fibrosis inherits 2 CFTR genes – one from each parent. Children who inherit a faulty CFTR gene from each parent will have Cystic Fibrosis.



Symptoms:

· Infections that block the airway that cause frequent coughing
· Diarrhea
· Liver Disease
· Diabetes
· Dehydration
· Gallstones
· Mucus may build up in the lungs and block air ways as well



Daily Life:

A person with Cystic Fibrosis has to struggle with his or her breathing every day. Most people diagnosed with CF live till mid adult hood. Children have an initial at least once a day. Also they need to take an antibiotic every day too.




Diagnosis:


CF can be caused by testing’s such as newborn testing’s, sweat testing’s, or genetic testing’s. Sweat tests measure the amount of salt in sweat and children diagnosed with CF have extremely salty sweat. Also when women a pregnant, tests can find out weather your fetus has CF. Newborn testing’s also can for certain diseases and Cystic Fibrosis is one of tough’s disease they look for. It also shows weather a new born has faulty CFTR genes. Syncs X-rays, chest X-rays, lung functions tests, and sputum culture can also see if some one is diagnosed with Cystic Fibrosis. About 1,000 new cases of CF are diagnosed each year.


Treatment:

The person diagnosed with CF needs to be one or more antibiotics at all times. There is no cure for Cystic Fibrosis. Scientists have been trying to improve CF over the years. Cystic Fibrosis can prevent and control lung infections because children with CF have very thick sticky mucus and will build up in the lungs to make it difficult for them to breathe. Also as the mucus starts to build up in the lungs it can put pressure on them and that can cause lung cancer or lung infections. The mucus for CF can also prevent build up in the intestines and cause dehydration as well.



Research:

Scientists are trying to make a healthy version of the gene for further study. Also there trying to make an antibiotic that brake down the mucus to make air enter the lungs more successfully. The treatments have improved over years too. Also scientists are trying to make treatments less scientific and less painful for the patients.


Additional Facts:

Cystic Fibrosis occurs 1 in 2,600 to 3,600 Caucasian newborns. Its occurs in Caucasian men and woman. Most carriers live a normal live like living with out Cystic Fibrosis. About 30,000 people around the world have Cystic Fibrosis.




Punnett Square:

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Pedigree Chart:

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Resources:

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Pub Med Health