NR 507 Week 2: Discussion Part One

SAMPLE ANSWER

1. What is the etiology of cystic fibrosis?

In cystic fibrosis, a mutation or a defect in a gene changes the protein that regulates the movement of salt in and out of cells. Cystic fibrosis, or CF, is 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. About 10 percent of CF cases are diagnosed after the patient is ten years of age.

ORDER NOW FOR ORIGINAL PAPER

What is the etiology of cystic fibrosis?

OR

Cystic fibrosis (CF) is an autosomal recessive genomic, multisystem disease that is differentiated by exocrine gland malfunction (Brown, White, & Tobin, 2017). CF arises from a transmutation in the cystic fibrosis transmembrane condance regulator (CFTR) genetic factor, found on genetic code 7 and controls the cascade of chloride ions through membranes of crypts that make phlegm, sweat, saliva, tears, and digestive enzymes(Brown, White, & Tobin, 2017).     The transmutation produces anomalous secretions and viscous mucus that block glands and conduits, which destroys tissues and seriously debilitate the respiratory, gastric, endocrinal/metabolic, and reproductive structure (McCance, Huether, Brashers, & Rote, 2013).   More than 1900 CFs have been found. Alterations of this genetic factor are subdivided into six categories according to how the transmutation affects the operation or method of the CFTR protein (McCance, Huether, Brashers, & Rote, 2013). Patients with category I, II, II transmutations are though-out to have a more serious generitype and category IV through VI have moderate respiratory illness (McCance, Huether, Brashers, & Rote, 2013), (Generally pancreatic sufficient). Fatality rates correspond with the categories discussed in the paragraph above. CF is the most prevailing fatal genetic illness in white people in the United States (U.S.), involving ten million or one in twenty nine whites, one  in fifteen thousand African Americans and  one in thirty-one thousand Asian Americans (McCance, Huether, Brashers, & Rote, 2013). Estimates of at least 1000 new incidents of CF are diagnosed annually, and the average age at diagnosis is six months (McCance, Huether, Brashers, & Rote, 2013). Roughly, 10 percent of the incidents are not diagnosed prior to after the 10 years of age, Nonetheless, these incidents normally have more moderate set of symptoms (McCance, Huether, Brashers, & Rote, 2013).  The average age survival ratio in the U.S. is thirty seven years of age (McCance, Huether, Brashers, & Rote, 2013).