Cystic fibrosis (CF) is characterized by the accumulation of thick and sticky secretions that can harm different body systems. CF is a challenging illness that emerges due to defects in one gene. The illness mainly manifests itself through the pulmonary system. Most of the illness’ mortality and morbidity emerge through pulmonary manifestation. The illness reaches its peak when the bronchiectasis and respiratory systems fail progressively and irreversibly (Horsley, Cunningham & Innes, 2015). The condition also affects the reproductive, metabolic, endocrine, nutrition, and gastrointestinal function systems. CF is an inherited disease in which a patient co-inherits two faulty genes, each from one parent. Both parents may not have CF (National Lung, Heart, and Blood Institute, n.d.).
Involved Body Systems
The body systems involved in CF includes mainly the exocrine glands that secrete mucus. Other affected body organs include the digestive organs, the reproductive organs, the respiratory organs, and sweat glands (Horsley, Cunningham & Innes, 2015).
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Normal Anatomy of Major or Body System Affected
The respiratory consists of the lower respiratory tract and the upper respiratory tract. The low respiratory tract includes progressive smaller branches consisting of the trachea, bronchi, bronchial tubes, and alveoli while the upper tract consists of sinuses and nasal passages. The cilia clear and clean the lungs (Martini et al., 2018).
The digestive system includes the mouth, the gastrointestinal tract, the stomach, the small intestine, liver, the pancreas, and the large intestine (Martini et al., 2018).
The reproductive system in men consists of the penis and the testes. The scrotum carries the testes inside it. Other organs include the seminal vesicle, prostate gland, erectile tissue, vas deferens tubes, and the epididymis. In women, the system consists of external organs, such as the clitoris, labia majora, Bartholin’s glands and labia minora, and internal organs, such as the uterus and vagina, and the ovaries that produce ova. The uterus and the vagina are linked by the cervix (Martini et al., 2018).
Normal Physiology of Body System Affected
Exocrine glands produce thin and slippery secretions, for example, digestive juices, tears, sweat, and mucus to aid in the normal functioning of different body systems. For example, the cilia in the respiratory system clean the lungs by moving mucus, germs and dust from small airways to the large airways where they are coughed out (Martini et al., 2018).
The mouth chews food and mixes it with saliva, moves it through the esophagus and into the stomach where it is mixed with stomach juices and broken down. Partly digested food moves into the small intestines in which it is mixed with bile from the liver and with enzymes secreted from the pancreas. The enzymes and bile complete the digestive process in which the nutrients obtained are absorbed by the bloodstream in the small intestine. The undigested food parts and waste are then collected in the rectum and leave the body as the stool (Martini et al., 2018).
In the reproductive system, sperms from the testes move through the vas deferens and link to the urethra. As the sperm passes, the seminal vesicle secrets prostaglandins and fructose into it, the prostate gland secrets an alkaline fluid into the passing sperm and the bulbourethral gland produces a mucus fluid to offer lubrication during intercourse. The combination of these secretions and sperm form semen. For women, the cervix links the uterus to the vagina. During intercourse, the male penis goes into the vagina in which the semen is released and moves into the uterus via the cervix (Martini et al., 2018).
Mechanism of Pathophysiology of CF
Cystic fibrosis transmembrane regulator (CFTR) gene mutations causes CF. A person inherits this genetic illness when two carrier parents each contribute CFTR mutated gene (Horsley, Cunningham & Innes, 2015). CFTR mutation produces a damaged CFTR protein, which leads to abnormal salt (chloride and sodium) and water transportation across cells lining the genital, digestive, and respiratory tracts (Haack, Aragão, & Novaes, 2013). In turn, this reduces the volume of water in fluids lining these tracts (Horsley, Cunningham & Innes, 2015). Low water volume leads to thick secretions from the respiratory system and other organs, which clogs their pathways. Bacteria can then infect the stagnant sputum and lead to chronic inflammation after persistent stagnation. In turn, this weakens the walls of bronchi as they dilate, which leads to bronchiectasis that further obstructs airflow. Regular infections, inflammations, and obstructions result in the lung function to decline progressively, which may lead to respiratory dysfunction and death (Horsley, Cunningham & Innes, 2015). In the digestive tract, the thick mucus blocks the pancreatic ducts and prevents enzymes from moving into the small intestine to digest food (Haack, Aragão & Novaes, 2013). In turn, this leads to incomplete digestion, inadequate absorption of nutrients, and loose and large foul smelling stool. CF also leads to thick bile in the gallbladder and the liver, which prevents it from moving easily into the intestine for digestion. In turn, this leads to liver scaring and inflammation. In the reproductive system, CF causes fertility issues both in men and in women. The illness can block the vas deferens or cause the organ to be defective leading to absence of sperm in the semen following ejaculation. The thick mucus also blocks the cervix, preventing sperms from reaching the egg for fertilization (Horsley, Cunningham & Innes, 2015). In the genital tract, infertility may emerge as the thick secretions block the van deferens in men and the cervix in women.
Prevention
CF prevention occurs through DNA testing for pregnant women or women who are considering getting pregnant. For a couple with a risk of getting a child with CF, reproductive innovations can be used to assist them to avoid getting a child with CF or to prepare for having a child with CF. Early diagnosis of CF before birth or through newborn screening offers adequate time to plan for treatment before the emergence of chronic symptoms (National Lung, Heart, and Blood Institute, n.d.).
Treatment
Current treatments aim to avert and manage infections in the lungs, slacken and eliminate the sticky and thick secretion, avert or treat obstructions in the digestive tract, promote correct nutrition, and hinder dehydration. Treatment options for lung issues include chest physical therapy, medicines, pulmonary rehabilitation program, and exercise (National Lung, Heart, and Blood Institute, n.d.). Medicines involve antibiotics, bronchodilators, and anti-inflammatory drugs. Antibiotics treat or prevent lung infections. They can be taken orally, inhaled or through an intravenous tube. Oral antibiotics focus on treating mild lung infections while inhaled one focus on managing or preventing bacterial infections. Intravenous antibiotics treat severe lung infections (National Lung, Heart, and Blood Institute, n.d.).
Anti-inflammatory drugs reduce swelling in the airways to infections. Bronchodilators relax the muscles around the airways to open them (National Lung, Heart, and Blood Institute, n.d.). They are mostly inhaled before chest therapy.
Pulmonary rehabilitation is used with medical management with a focus on nutritional advice, exercise training, lung infection education, techniques to conserve energy, breathing techniques, and psychological counseling (National Lung, Heart, and Blood Institute, n.d.).
For advanced lung infections, oxygen therapy is used. Lung replacement may be required of the lung infection is very chronic (Haack, Aragão & Novaes, 2013).
Nutritional therapy is used to manage digestive issues that emerge due to CF. It involves creating a nutritional plan that meets the patient needs(National Lung, Heart, and Blood Institute, n.d.). Nutritional therapy can be accompanied by oral pancreatic enzymes to assist in digestion, vitamin supplements, high energy foods, high salt intake, and a feeding tube to supply extra calories during sleeping hours.
Clinical Relevance
CF is caused by CFTR gene mutations. There are, however, a substantial number of these mutations (2,007 mutations) and only a few of them have been examined in research (Salinas et al., 2016). In turn, this makes it challenging to identify the specific mutation that can predict the emergence of CF. 208 of the known mutations have been identified and grouped. It is, thus, important to examine and categorize all the involved mutations to identify the specific gene mutations that cause CF to help scientists determine ways to correct the disease-causing mutations.
References
Haack, A., Aragão, G. G., & Novaes, M. R. C. G. (2013). Pathophysiology of cystic fibrosis and drugs used in associated digestive tract diseases. World journal of gastroenterology: WJG , 19 (46), 8552.
Horsley, A., Cunningham, S., & Innes, J. A. (2015). Cystic fibrosis . Oxford: Oxford University Press.
Martini, F., Nath, J. L., Bartholomew, E. F., Ober, W. C., Ober, C. E., Welch, K., & Hutchings, R. T. (2018). Fundamentals of anatomy & physiology . New York: Pearson Education.
National Lung, Heart, and Blood Institute. (n.d.). Cystic Fibrosis. Retrieved November 4, 2018, from https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis
Salinas, D. B., Sosnay, P. R., Azen, C., Young, S., Raraigh, K. S., Keens, T. G., & Kharrazi, M. (2016). Benign and deleterious cystic fibrosis transmembrane conductance regulator mutations identified by sequencing in positive cystic fibrosis newborn screen children from California. PloS one , 11 (5), e0155624.
