Biology Case - Cystic Fibrosis

Cystic fibrosis is a disease that can be genetically passed down to offspring. According to the cystic fibrosis foundation's website, "it affects the lungs and digestive system of about 30,000 children and adults in the United States," and "70,000 worldwide" (www.cff.org). The online website lab tests online, records that cystic fibrosis "is a relatively common disease caused by mutations in the gene located on chromosome 7" (www.labtestsonline.org). This chromosome contains a protein called cystic fibrosis transmembrane regulator or CFTR and a mutation in this gene "lead to absent or defective CFTR production causing cystic fibrosis (www.labtestsonline.org).

There are some very specific signs and symptoms of this disease. Some of the most common symptoms are: "very salty tasting skin, persistent coughing at times with phlegm, frequent lung infections, wheezing or shortness of breath, poor growth/weight gain in spite of a good appetite, and frequent bulky tools or difficulty in bowel movements" (www.cff.org). It is also reported by the American lung association's website that it "causes thick, sticky mucus to form in the lungs, pancreas and other organs. In the lungs, this mucus blocks the airways, causing lung damage and making it hard to breathe. In the pancreas, it clogs the pathways leading to the digestive system, interfering with proper digestion" (www.lungusa.org).

It is important to be genetically tested to see if there is a possibility of having the carrier gene since cystic fibrosis is a recessive genetic disease. The cystic fibrosis foundation's earlier mentioned website also reported that "more than 10 million Americans are symptomless carriers of the defective (CFTR) gene," "more than 70% of patients are diagnosed by age 2.. more than 45% of the patient population is age 18 or older" and about 1,000 new cases of cystic fibrosis are diagnosed each year" (www.cff.org).

There have been many advancements in how to deal with