Describe in detail the pathophysiological process of cystic fibrosis
Complications in cystic fibrosis patients differ depending on the extent of transmutation of the cystic fibrosis transmembrane conductance regulator (CFTR) (Brown, White, & Tobin, 2017). CF is defined by atypical excudations that cause blockages in the pulmonary, gastrointestinal, and reproductive tracts (Brown, White, & Tobin, 2017). According to the literature, there may be additional CF-linked primary defects, such as an intrinsic proinflammatory condition and abnormal immune protection in the lungs (Brown, White, & Tobin, 2017). CF is caused by a transmutation caused by a defect in the CF transmembrane conductance regulator gene. The CFTR polypeptide is a cyclic adenosine monophosphate (cAMP)-activated chloride medium that exists on the surface of many different types of epithelial cells, including those lining the trachea, bile ducts, pancreas, sweat glands, and vas deferens (McCance, Huether, Brashers, & Rote, 2013). Despite the fact that CF is a multiorgan medical condition, lung pathosis is the cause of patients’ sudden death. This causes airway surface liquid depletion in the lung, which leads to ciliary collapse and reduced mucociliary transport because airway surface liquid is important for ciliary balance and function (Brown, White, & Tobin, 2017). As a result, a vicious circle of mucus retention occurs, resulting in pestilence of the small airways and chronic inflammation (Brown, White, & Tobin, 2017).
CF is associated with deficient epithelial chloride ion transport (McCance et al., 2013). The CF gene can be found on chromosome 7
and has six classifications that differ in severity (McCance et al., 2013). Research states that “the cystic fibrosis transmembrane conductance regulator (CFTR or CFTR) gene mutation results in the abnormal expression of cystic fibrosis transmembrane conductance regulator protein, which is a cyclic adenosine monophosphate (cAMP)-activated chloride channel present on the surface of many types of epithelial cells including those lining the airways, bile ducts, the pancreas, sweat ducts, and the vas deferens” (McCance et al., 2013).
Most commonly the CF genetic mistake is the DF508 protein that results in hypochloremia that progresses to lung issues related to thick mucus which inhibits proper air exchange that leads to infections, lung damage, and could ultimately lead to respiratory failure (CFF, n.d.). Patients display a variety of symptoms from the salty-tasting skin, to a cough, frequent respiratory infections, wheezing, dyspnea, clubbing, poor weight gain even though there is a good appetite, and stools can range from greasy to difficulty in having bowel movements (CFF, n.d.). The patient is five months old (the median age at diagnosis is six months), is experiencing greasy, foul-smelling diarrhea, small for her age, coughing, and wheezing, which are classic symptoms of CF. If the disease presents itself later in life, the patients typically have milder symptoms as opposed to diagnosing the patient within the first year of life. The severity of the disease depends on which class it falls in; classes 4-6 experience milder symptoms than those that fall within classes 1-3 (McCance et al., 2013). CF must be diagnosed early to improve the patient’s quality and longevity of life. After recognizing the symptoms, one must confirm their differential before giving a definite diagnosis. Screening newborns for CF is a universal protocol in the United States.