Cystic Fibrosis

Description:
Cystic fibrosis affects the respiratory system and digestive system. This disorder is caused by a defective gene on chromosome 7. It is called the CFTR gene. In the gene, protein helps salt move in and out of cells, so the movement is blocked and an abnormally thick sticky mucous is produced on the outside if the cells when you have cystic fibrosis. The lung cells are affected. Mucous clogs airways and increases the risk of infection from the bacteria. It blocks ducts in pancreas, so the digestive enzymes cannot get into the intestines. This makes it so food can’t digest properly. This leads to not getting the nutrition needed to grow normally. Lastly, cystic fibrosis affects the sweat glands because too much salt is lost through sweat. It disrupts the delicate balance of minerals.

Inheritance:
Cystic fibrosis is an autosomal recessive disease. This means both parents have to be a carrier and carry the defective gene. It does not mean they have the disorder, though. To inherit the disorder, both parents must pass on the gene. If the offspring inherits one defective gene, it is a carrier. Out of the offspring, there is a 50% chance of being a carrier, a 25% chance of being normal, and a 25% chance of having the disease.



Symptoms:
Ø Coughing or wheezing
Ø Respiratory illness (pneumonia or bronchitis)
Ø Weight loss
Ø Salty-tasting skin
Ø Greasy stools
Ø Lungs get clogged and infected
Ø Lung cells don’t last as long as they should


Daily Life:

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Diagnosis:
When having cystic fibrosis, 2-5 times the normal salt level is contained in the patient’s sweat. So, doctors can use a sweat test to measure the amount of salt. This sweat is collected from an arm or leg and the sweat is then analyzed in a lab. Also, doctors can diagnose this disorder in newborns by measuring the amount of a protein called trypsinogen in blood. This protein amount is higher in cystic fibrosis patients than normal people. Lastly, this disease can be diagnosed by a genetic test identifying a faulty CFTR gene from a blood sample.


Treatment:
Even though, cystic fibrosis cannot be cured, there are some treatments. Obviously, clearing mucous from the lungs is the main priority. To do so, chest physical therapy is where the patient is repeatedly clapped on the back to free up mucous. Also, inhaled antibiotics help to kill bacteria. Bronchodilators help to keep airways open. Pancreatic enzyme replacement therapy allows the patient proper digestion. And, there is gene therapy where a healthy CFTR gene is inserted into lung cells to correct the defective gene.


Research:
The Cystic Fibrosis Foundation was started in 1955. In this organization, people provide awareness and information about cystic fibrosis. Scientists in this foundation join to find new ways to increase the length of a cystic fibrosis patient. Also, they find ways to improve the quality of their lives. Scientists have been determined to keep finding new therapies. Over the years this organization has been keeping people updated with all the new information about this genetic disorder.



Additional Facts:
In addition, about 2,500 babies in the United States are born with cystic fibrosis each year. About 1,000 new cases are diagnosed each year. More than 70% of patients are diagnosed by age 2. Interestingly, more than 45% of the cystic fibrosis population is age 18 or older. A little over 10 million Americans carry the cystic fibrosis gene but don’t know it. The usual life span of a patient of cystic fibrosis is about 30-40 years. That number is increasing slowly by the new facts and treatments found day-by-day.



Punnett Square:

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Pedigree Chart:
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Pictures:
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Resources:

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