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Introduction
Cystic fibrosis, a life-threatening health complication, affects several organs within the human body. By being inheritable, the difficulty interferes with the electrolyte transport system, resulting in the cells’ absorption of excess water and sodium (Spilsbury, 2019: 23). The condition is mainly associated with the destruction of the mucus and sweat glands. Cystic fibrosis (CF) occurs when a gene mutates in the cystic fibrosis conductance transmembrane regulator (CFTR), triggering the iteration in the body’s electrolyte transport system cells (Bergeron et al., 2019: 715). The functionality of the cells dramatically relies on electrolyte substances within the cells, and due to changes, sweat and mucus secretion also interfere. Due to the CFTR being complicated and extensive, the variations associated with the genes in the body are many.
The risk of CF is high among people whose parents have had the condition and can only occur when a person is born with 2 CF inherited genes, one from each parent. The most familiar symptoms attributed to the complication constitute thick mucus clogged within specific organs like the intestines, pancreas, and lungs (Young et al., 2019: 227). Other symptoms comprise nasal polyps, sinusitis, abdominal pain, coughing up blood, lung collapse due to severe coughing, and gallstones, among others, and differ among patients.
Anatomical Component of CF
CF is an autosomal recessive condition that results in multisystem dysfunction. By being a multisystem health condition, cystic fibrosis affects several underlying organs within the body. Within the respiratory tract, the chloride channel present in several epithelial tissues, CFTR protein, is encoded by the CFTR gene (Bergeron et al., 2019: 716). Once encoded, the ATP drives the chloride against its concentration gradient. The CFTR present within the submucosal glands and the epithelial cells results in chloride ion movement disruption and impacts the reabsorption of sodium. The outcome in the respiratory tract is reduced secretion of water due to a reduced airway surface liquid, which serves to impede mucus clearance. The interference within the lung environment allows for bacterial growth in the biofilm growth mode, generating ideal conditions for protecting the bacteria against antibiotic actions and the host cells (Bergeron et al., 2019: 720). Tissue damage, therefore, results when there is pro-inflammation within the tissues.
Within the pancreas, pancreatic insufficiency results from the permanent damage of the exocrine pancreas when the pancreatic duct is occluded in-utero. The deficiency is closely related to the pancreatic genotype. As the shortage continues, 28 percent of the endocrine pancreas among children ten years and above requires CF-related diabetes mellitus treatment (Young et al., 2019: 232). The impact CR has in the gastrointestinal duct arises from the way viscous mucus is secreted by the small intestine, which risks bowel obstruction within the utero that potentially causes meconium ileus (Spilsbury, 2019: 44). Neonatal jaundice, which comes due to cholestasis associated with the presence of CT within the biliary tree in-utero. As the condition progresses, it potentially becomes distal intestinal syndrome (DIOS) and liver-related complications related to CF.
The last multisystem dysfunction associated with CF affects the reproductive tract. The cause for more than 97 percent of men with CF found to be infertile is attributed to vas deferens absence (Bergeron et al., 2019: 721). While nutrition is a significant predictor of pregnancy success, research suggests that pregnancy timing can be timed with care since pregnancy is often associated with lung health deterioration.
Physiological Component of CF
When it occurs in children, the problem with CF is that it causes challenges with physical growth, development, and weight loss. For an effective increase in children, extra nutrients and energy are essential; however, in children with CF, extra calories are required to fight infections and breathe effectively (Spilsbury, 2019: 79). Therefore, when observed that children have difficulty gaining weight and maintaining it, that becomes a sign that their gastrointestinal systems are having a challenge absorbing essential growth nutrients.
With the difficulties in the gastrointestinal systems, the body slows down its activities, and the necessary movements are significant in helping the food progress through the system. Filbrun et al. (2016: 77) illustrate that due to the blockages in the gastrointestinal systems, the body encounters complications associated with the prevention of sufficient digestive enzyme amounts from mixing with food particles. In the absence of enzymes, the body cannot absorb the nutrients from the food particles or undergoes a lot of stress (Spilsbury, 2019: 83). With this complication comes associated effects like vomiting, nausea, acid reflux, and belly pain.
In the lungs, and this effect is the same for adults and children, the body reacts to the presence in the lungs by an immunological response from the white blood cells. Due to the response, the white blood cells race to the location where the cilia have become incapable of sweeping the lungs (Spilsbury, 2019: 87). Filbrun et al. (2016: 94) show that in an uninfected lung, the tiny structures that resemble hairs, referred to as cilia, have the responsibility of sweeping the lungs to eliminate the excess mucus and any other substance present in the lung. and the same goes for bacteria. However, when the main branches of the lungs are affected by CF, they succumb to the sticky and thick mucus that prohibits the cilia from performing their responsibilities. Therefore, with irresponsibility comes the growth of the bacteria and the lungs clog. The mucus eventually builds up within the lungs resulting in a decline in lung function (Filbrun et al., 2016: 97). The prolonged decline in lung function due to poor lung functioning and residual infection eventually results in long-term lung damage.
Conclusion
As already established, children whose both parents have CF are at high risk of being affected by CF since the complication is hereditary. In the United States, the prevalence of health complications is 1 in every 3,200 people for Caucasians, and for African Americans, the majority stands at 1 in every 15,000 people (Spilsbury, 2019: 31). Through medical history, possible diagnosis ranges from blood tests, used in detecting CFTR gene mutations, and chloride or sweat test, used in measuring chloride amounts in the sweat. Other potential diagnoses constitute chest x-rays, pulmonary function tests, computed tomography scans, and magnetic resonance imaging (Filbrun et al., 2016: 89). While symptoms vary between patients, the consensus is that prognosis majorly relies on pulmonary involvement extent.
Deterioration often occurs, resulting in subsequent death and debilitation due to cor pulmonale or respiratory failure. No cure exists for the management of CF, and the majority of the patients die between the ages of 20 and 30 years due to lung failure (Filbrun et al., 2016: 63). Nonetheless, with an early prognosis, it becomes possible to prolong life quality and survival rates. Medically, the condition can be controlled using enzyme therapy, vitamin supplements use, pain relievers, bronchodilators, antibiotic use, and DNA enzyme replacement.
References
Bergeron, C., & Cantin, A. M. (2019). Cystic Fibrosis: Pathophysiology of Lung Disease. Seminars in respiratory and critical care medicine, volume:40 number:06 pages:715-726.
Filbrun, A. G., Lahiri, T., & Ren, C. L. (2016). Handbook of Cystic Fibrosis. Cham: Springer International Publishing.
Spilsbury, R. (2019). Cystic fibrosis. New York: Rosen Central.
Young, T. J., Li, D. A., Eshaghian, P. H., & SpringerLink (Online service). (2019). Cystic Fibrosis: an Update on Disease Pathophysiology, Management, and Novel Modalities of Therapy. Current treatment options in allergy, volume:6 number: 3, pages:226-237.
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