Cystic Fibrosis

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Cystic Fibrosis

Abstract

The paper examines the etiology, pathophysiology, signs, symptoms, and treatment of cystic fibrosis. The life-long disease is caused by the defect of the CFTR gene that is inherited from parents. Newborn screening has enabled ill babies to undergo treatment, hence curbing their mortality rate. The situation is worse with the people  who were not screened after birth as not all of them have symptoms at the early stages of the disease. Cystic fibrosis is associated with a number of diseases and conditions, including pancreatitis, chronic hypoxia, lung infections, and others. There are no treatment options that can completely cure the disease. However, the use of medication, change of lifestyle, and different approaches allow to lessen the symptoms and prevent the development of associated diseases.

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Background

Cystic fibrosis is an inherited disorder that is associated with a severe damage to the digestive system and lungs. It affects the cells that are responsible for the production of sweat, mucus, and digestive juices, making the secreted fluids thick and sticky rather than thin and slippery. Therefore, the secretion does not act as a lubricant and obstructs tubes and passageways in the pancreas and lungs. The disease requires proper care on the daily basis. The disease can be fatal if it leads to a serious infection or poor work of the lungs. The cystic fibrosis outlook had improved over the years, and scientists have made great advancements in the disease treatment. However, the life expectancy of the cystic fibrosis patients remains comparatively short. More than half of the people who suffer from the disease live past the age of 40. In case the disease is diagnosed immediately after birth, there are chances to live longer (“Cystic Fibrosis,” 2016). Although there is no treatment that can completely cure the disease, there exist numerous treatment options that enable people with cystic fibrosis to lead a successful life. 

Etiology

The cystic fibrosis gene defect is the cause of cystic fibrosis. The gene is responsible for the coding of the protein transmembrane conductance regulator (CFTR). The CFTR gene mutations lead to cyclic adenosine monophosphate (cAMP) abnormalities. In other words, cystic fibrosis is the cause of child inheritance of a changed gene from both parents (LeGrys et al., 2007). This mutated gene causes problems related to the movement of salt and water in and out of the cells that are responsible for the formation of mucus. This results in mucus stickiness or thickness, making it difficult for the body to keep certain organs healthy. People frequently have no idea that they have the changed gene. 

In case of cystic fibrosis, a mutation in a gene alters the protein that regulates the salt cell movement. This leads to the emergence of stick and thick mucus in the reproductive, digestive, and respiratory systems. In addition, it may result in the increased amount of salt in sweat. The gene can undergo different changes. Children have a disease in case they inherit one gene copy from each parent. If a child inherits only one copy, it does not develop cystic fibrosis. However, a can pass the gene to offspring.

Newborn screening for cystic fibrosis is performed in all US states. It means that it is possible to diagnose the disease immediately after a baby is born and before it develops symptoms. However, people who were born before the performance of newborn screening should be aware of the disease signs and symptoms. 

Signs and Symptoms

The signs and symptoms of cystic fibrosis differ from one patient to another, and they depend on disease severity. A person with the disease may experience different symptoms that tend to worsen or improve with time. However, some people do not have any signs and symptoms until adulthood. Patients with cystic fibrosis tend to have an increased salt level in sweat. People can even taste salt when they kiss their relatives who suffer from the disease. Many symptoms of the disease affect the digestive and respiratory system (Gibson, Burns, & Ramsey, 2003). Moreover, the disease in adults often results in infertility, diabetes, and pancreatitis. 

The respiratory signs of the disease are breathlessness, wheezing, frequent lung infections, exercise intolerance, stuffy nose, inflamed nasal passages, persistent cough, etc. In terms of the digestive system, the signs and symptoms of cystic fibrosis include greasy and foul-smelling stools, severe constipation, poor growth and weight gain, intestinal blockage, and others. The CFTR mutation causes several classes of defects, including the CFTR protein synthesis absence, disordered regulation, defective chloride conductance, diminished transcription, and defective protein maturation. As CFTR mutations are known for poor penetrance, the genotype does not predict disease severity (Ratjen & Döring, 2003). Defective CFTR leads to the decreased chloride secretion and increased sodium and water reabsorption across epithelial cells. Most cystic fibrosis patients experience a severe chronic disease of lungs and exocrine pancreatic insufficiency. In addition, many of them have rectal prolapse, nasal polyposis, pancreatitis, pansinusitis, chronic diarrhea, cholelithiasis, and other diseases. 

Pathophysiology

The CFTR malfunctioning causes sinus disease. However, the exact mechanism remains unclear. Researches indicate that most deaths related to cystic fibrosis are the result of the end-stage lung disease (Rowe & Clancy, 2006). After birth, children with cystic fibrosis tend to suffer from a lung infection that causes a distinctive bacterial flora. Moreover, CFTR defects result in the reduced chloride secretion, with water that flows into the gut, leading to meconium ileus and the syndrome of distal intestinal obstruction. Moreover, they cause pancreatic disease due to the reduced bicarbonate secretion that negatively influences digestion. Other factors that do not allow the pancreatic enzymes to reach the gut are the reduced water secretion content, protein precipitation, and plugging of acini and ductules. The pancreas autodigestion results in pancreatitis. Almost all patients with cystic fibrosis experience pancreatic enzyme insufficiency.

The absence of a functional CFTR in epithelial cells results in the reduced chloride secretion, the reduction of water and chloride passive transport, and the increased bile viscosity. Sometimes, the biliary ductule is plugged with secretions, which may result in slenomegaly, esophageal varices, and hypersplenism. Some patients experience secondary liver involvement due to the engagement of other organs. For instance, malnutrition may be related to hepatic steatosis, while right-sided heart failure, which is associated with chronic hypoxia, may lead to the passive liver congestion. Researchers have discovered that gallstones are frequent in patients with cystic fibrosis (Sharma & Bye, 2016). In addition, they sometimes blame cystic fibrosis for male infertility. However, some females have decreased fertility because of the condition as well. Moreover, women may suffer from amenorrhea with the pulmonary or nutritional involvement. 

Therapeutic Treatment

Currently, there is no treatment that can fully cure cystic fibrosis. However, there are many treatment methods that help to control its symptoms, making the condition not excessively difficult to live with. In addition, a variety of treatment option enables the prevention of complications. For example, possible treatments include medication that aims at widening the airways, reducing inflammation, making the lung mucus thinner, preventing and treating chest infections, and facilitating food absorbtion. Moreover, patients are advised to use special techniques and devices that enable them to clear mucus from the lungs. Finally, it is essential to follow a special diet and take supplements that prevent malnutrition. 

Scientists explore the gene therapy due to multiple mutations associated with cystic fibrosis (Cohen-Cymberknoh, Kerem, Ferkol, & Elizur, 2013). Their primary aim is to learn to transfer the health and functional protein of the CFTR to the cell membrane through the theory of protein repairing. There is an idea that gene therapy has to be administered in utero to effectively prevent the gastrointestinal and respiratory cystic fibrosis consequences. The lung transplantation (the transplantation of living or cadaveric lobes) from two donors has become a common treatment in cystic fibrosis patients. Another treatment option is postural drainage. This procedure requires approximately 15 minutes to be effective. A non-invasive positive-pressure ventilation is used in cystic fibrosis patients with a severe but stable dysfunction of lungs who are waiting for the lung transplantation. Scientists state that recurrent hemoptysis can effectively decrease the compliance of patients with rigorous chest physiotherapy. In addition, it can predispose patients to the acute respiratory failure exacerbations (Burney & Davies, 2012). Cystic fibrosis patients who have hemoptysis require the stabilization of their hemodynamic status and the maneuvers of the aggressive airway clearance after bronchial artery embolization. Patients with the critical condition tend to experience pneumothorax. Therefore, they require chest drainage that leads to the re-expansion of the lung tissue. Such patients are advised to continue chest physiotherapy and suctioning as these methods help to maintain a proper clearance of the airway.

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In some cases, cystic fibrosis patients who have hemoptysis are treated with vitamin K. It has been found that critically ill people with the disease are apt to bowel obstruction because of diet changes, inactivity, stress, sedation, and other reasons. Therefore, it is essential to monitor such patients. In case of malabsorbtion, patients are prescribed special pancreatic supplements because the condition may be life threatening. Diarrhea in cystic fibrosis patients is common due to the frequent use of antibiotic therapy. Moreover, they experience the problem of nasal polyps that also requires a proper treatment. Older patients with the disease usually have glucose intolerance. It is related to frequent stress, steroid treatment, and infection (Grossman & Grossman, 2005).

It is possible to successfully treat mild acute pulmonary exacerbations of cystic fibrosis at home by means of antibiotics, postural drainage, bronchodilator treatment, increase of the airway clearance frequency, and other methods. Patients with cystic fibrosis are frequently suggested to take the medication that includes mucolytics, supplements of pancreatic enzymes, bronchodilators, multivitamins, antibiotics, inhaled hypertonic saline, anti-inflammatory agents, and agents that reverse abnormalities related to the chloride transport and the treatment of associated conditions. 

In conclusion, cystic fibrosis is a life-long condition that affects primarily the digestive and respiratory system. Nowadays, all new-born babies are inspected, which allows to detect the condition during its early stages and helps people with the disease to live longer. The CFTR gene defect is the reason for cystic fibrosis. Children inherit it from their parents. There are many conditions associated with the disease. Unfortunately, it is currently improssible to completely recover from cystic fibrosis. However, there are many treatment options that lessen the symptoms and help patients avoid the development of diseases associated with cystic fibrosis.

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