What is the etiology of cystic fibrosis?
What is the etiology of cystic fibrosis?
SAMPLE ANSWER
A mutation or a defect in a gene changes the protein that regulates the movement of salt in and out of cells in cystic fibrosis. Cystic fibrosis, also known as CF, is an autosomal recessive disorder affecting the lungs, pancreas, small and large intestines, liver, gallbladder, bile ducts, sweat and saliva glands, and the vas deferens. Persistent respiratory infections (wheezing and coughing), pancreatic insufficiency (greasy, foul-smelling stools), and elevated sweat chloride levels are the most common symptoms of CF (Katkin, 2017). As a result, thick, sticky mucus forms in the respiratory, digestive, and reproductive systems, and sweat salt levels rise. The gene can have a variety of flaws. The severity of the condition is related to the type of gene mutation. To be affected by the disease, children must inherit one copy of the gene from each parent. If a child inherits only one copy of the gene, he or she will not develop cystic fibrosis. They will, however, be carriers and may pass the gene on to their children. The average age of survival is 40 years old (Van Biervliet et al., 2016). Among Caucasians, CF is the most common and fatal autosomal recessive disease. Approximately 10% of CF cases are diagnosed after the patient reaches the age of ten.
Cystic fibrosis (CF) is an autosomal recessive genomic, multisystem disease that is differentiated by exocrine gland malfunction
What is the etiology of cystic fibrosis
(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).