Cystic Fibrosis: The Physiological Impacts on the Body
Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene which encodes a chloride ion channel. The disease reduces chloride and bicarbonate transport in epithelia leading to aberrant mucus lining such organs as lungs and the intestines. Clinical manifestations of CF affect mostly the respiratory and digestive systems. Even though the life expectancy of CF patients has made significant improvements thanks to the emergence of novel precision medication modalities targeting CFTR, this disease remains an incurable condition. In addition, mutant CFTR impairs the lungs and digestive systems, contributing to infection and inflammation. In this regard, the purpose of this essay is to delineate the physiological as well as anatomical impacts reiterated in cystic fibrosis patients and remark extension on the disease's clinical impact on patients.
Physiological Impacts of CF
CF is the most widely prevalent autosomal inherited fatal condition among Caucasians. Mutations affecting the CFTR gene are responsible for the observed clinical manifestations. Although over 2000 recorded mutations within the CFTR gene are coded, it has been widely established that only a few hundred yield a clinically significant number in different countries (Rowe et al., 2015). Mutations manifest in either homozygous or heterozygous states, from which clinical independence of the type and severity of mutations gets established. Most common mutations recognized within the CFTR gene are the deletion of phenylalanine located at position 508 (significantly prevalent in the Caucasian population). This is followed by defective assembly and trafficking interventions, concomitantly with reduced ion transport function and lack of well-synchronized production of mucus (Vij et al., 2021). The defect in ion channel regulation leads to airway surface liquid homeostasis and dyspnoea, creating respiratory mucosa, which contributes to the increase in bacterial colonization as well as inflammation. Colonization with pathogens constituting Staphylococcus aureus and Pseudomonas aeruginosa lead to symptoms of dyspnoea and wheezing (Ghosh et al., 2021).
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Impaired lung function is one of the major manifestations a patient with cystic fibrosis faces (Rowe et al., 2015). Acute exacerbations causing further alveolar rupture, inflammation as well as irreversible lung damage reduce lung function. In addition, the impaired lung function leads to pulmonary infections. Unlike healthy individuals, CF patients, experience pulmonary infections that rarely lead to inflammation (Bell, 2021). CF patients experience one of the two distinct lung inflammation namely "remediation," which includes heightened protease activity happening at later stages, versus unabated which constitutes unequal protease activity and inflammation (Rowe et al., 2015).
Additionally, the thick sticky mucus produced as a result of the CF mutation causes obstruction within the pancreas that leads to poor digestion, malabsorption of nutrient, and consequential malnutrition in the patient (Bell, 2021). Cystic fibrosis transmembrane conductance regulator (CFTR) genetic mutation leads to the pancreas secreting thick viscous fluids leading to exocrine pancreatic insufficiency causing flatulence, oily stools, fatty stools, weight loss and stunted growth in children in some cases (Castellani et al., 2017). A portion of cystic fibrosis patients report no signs of exocrine pancreatic failure which is attributed to increasing malignancy of the pancreatic cells (Rowe et al., 2015). Moreover, the mutation within the CFTR causes inappropriate HOMO pool formation which immobilizes the organelle and cells trafficking in pancreatic, enterocyte, and bile canalicular. The surface epithelial fluid is derived from the bile salts (Rowe et al., 2015). However, cholestyramines' increased surfaces sludge due to undergoing protein conjugated with bile acids and the loss of an insoluble aqueous pathway. Also, with CFTR channel mutation, there are decreased lipid digestion and dietary fat malprocessing (Rowe et al., 2015) leading to an increase in calorie consumption between 1,250 and 14,000 kilocalories over the normal age expected requirement. As a result of the disease state within the pancreas, there is a need for dietary supplements undertaking K, D, E and A.
In addition, a significant percentage of female patients suffering from cystic fibrosis are likely to end up infertile and this is attributed to the blocked cervix. Similarly, the occurrence of infertility due to the thick additional viscous semen that is unable to travel through the vas deferens organ in men. However, although men lacking organs like vas deferens are claimed