Summary nr 507 discussion part 1 week 2.

Document Content and Description Below

Summary nr 507 discussion part 1 week 2. What is the etiology of cystic fibrosis? In cystic fibrosis, a defect (mutation) in a gene changes a protein that regulates the movement of salt in and out o... f cells. An autosomal recessive disorder that affects the lungs, pancreas, small and large intestines, liver, gallbladder, bile ducts, sweat and saliva glands and the vas deferens. The most common symptoms of CF include persistent respiratory infections (i.e., wheezing and coughing), pancreatic insufficiency (i.e., greasy, foul-smelling stools), and elevated sweat chloride levels (Katkin, 2017). The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat. Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition. Children need to inherit one copy of the gene from each parent to have the disease. If children inherit only one copy, they will not develop cystic fibrosis. However, they will be carriers and possibly pass the gene to their children. The mean survival rate is 40 years of age (Van Biervliet et al., 2016). CF is the most common and fatal autosomal recessive disease among Caucasians. CF affects 1 in 3,000 Caucasians, 1 in 9,200 Hispanics, 1 in 10,900 Native Americans, 1 in 15,000 African Americans, and 1 in 30,000 Asian Americans (Katkin, 2017). Approximately 75 percent of CF cases are diagnosed by one year of age with a median diagnosis age of 6 months (McCance, Huether, Brashers, & Rote, 2013). About 10 percent of CF cases are diagnosed after the patient is ten years of age. However, these cases tend to exhibit milder symptoms (McCance et al., 2013) [Show More]

Last updated: 1 year ago

Preview 1 out of 15 pages