Cystic Disease: Cystic Fibrosis

Cystic fibrosis (CF), is a disease that is inherited, or passed down through genes from parents to offspring. This disease affects the secretory glands, including the glands that produce mucus and sweat. CF develops when a person inherits two faulty CF genes, one from each parent. Parents, more than likely, don 't have the disease. CF affects many body organs, but mostly the lungs, pancreas, liver, intestines, sinuses, and sex organs (What Is Cystic Fibrosis?, 2013).

CF is an autosomal recessive trait and the gene mutation is located on chromosome #7. There are several different mutations of this gene that could result in cystic fibrosis. The most common mutation is the absence of three base pairs in the DNA sequence, which is 250,000 nucleotides

Respiratory therapists will perform chest physical therapy on the person. They accomplish this by pounding on the CF patients’ chest either with a cupped device or their hands. CPT helps loosen the mucus in the lungs and allows the patient to cough it up. This therapy allows clearing any obstruction from the airway and in turn reduces chances of infection. To be effective, CPT should be done three to four times per day. (Cystic Fibrosis - Clinical Manifestations In Cf., n.d.). When the chest percussions of CPT are being performed, the patients needs to be lying on their stomach, with their head facing down. This position is often called the postural drainage position (PD) (Mandal, 2014). and helps facilitate the use of gravity to help drain all the mucous that may be trapped in the

If needed, caregivers or family members can help take care of the patient at home. Respiratory therapists can teach a home caregiver or family member how to successfully perform CPT and PD. If done, as recommended, then the patient is less at risk for an accumulation of mucus, which will cause repeated infections.

Another treatment is a surgical procedure in which one would have a lung transplant. The average waiting time for a lung transplant, however, is two years. Many times the person waiting for a new lung develops further complications and/or they die before getting the long. The survival rate of lung transplant is about 50% (How Is Cystic Fibrosis Treated?, n.d.).

The most recent article that I found on CF from PubMed was published in February of 2016 and titled “Design of Novel Aminoglycoside Derivatives with Enhanced Suppression of Diseases-Causing Nonsense Mutations.” Although the article was not solely about CF, it discussed how different nonsense DNA-constructs underling the genetic diseases such as cystic fibrosis. I choose this disorder because a child whom I oversaw in my clinical rounds had this disease and I wanted to know more about it and how it would affect his quality of