Cystic Fibrosis
Cystic fibrosis, also known in medical terms as mucoviscidosis is a genetically acquired (hereditary) disease common people of Caucasian and Jewish descent (Roberts, 2003). It affects glands that aid inn waste secretion in the entire body to bring about steady progressive disability and eventual death (Davis, 1993). Children who acquire cystic fibrosis are at a risk of facing an early death. The body organs that are most often affected are the lungs, liver, sinuses and the pancreas. The sex organs and any other glands that secrete mucus and other body fluids are also affected. Cystic fibrosis affects the body by disabling the production of mucus that lubricates body tissue and supports metabolic processes.
An overview of cystic fibrosis
In normal body operations, mucus is produced on the linings of most bodily tissues to keep them moist because the drying up of the tissues causes irritation, making them prone to infections (Murphy, Schubert, 2005). Under normal circumstances, mucus secreted is slippery and watery but if a person has cystic fibrosis, mucus produced is thick and very sticky. It then builds up and blocks the passage of air in the lungs and causes congestion in other body organs creating an environment conducive for the accumulation and multiplication of bacteria (Sharma, 2009). The resultant repeated infections severely damage the lungs in the long run. In the liver and pancreas, this sticky mucus blocks the tubes and ducts that from the passages of enzymes produced here and also the waste products of metabolism.
The pancreas produces enzymes that are required for the digestive process in the small intestines. Due to the blockages caused by thicker-than-normal mucus, these vital enzymes cannot reach the small intestines (Roberts, 2003). Therefore a patient of cystic fibrosis exhibits deficiency of vital nutritional entities like vitamins and proteins, becoming severely malnourished. Indigestion also occurs because of non-exhaustive digestion leading to constipation, the excretion of bulky stool and the accumulation of gases in the intestines.
Cystic fibrosis causes the patient to excrete very salty sweat therefore losing a lot of minerals salts in the process (Sharma, 2009). When the natural balance of salts in the blood and other body fluids is upset, there results a number of serious health and metabolic anomalies. Dehydration results due to the body losing more fluids because of the decreased salt concentration leading to increased heartbeat rates, fatigue, low blood pressure, stroke and even death.
Diagnosing and monitoring cystic fibrosis
Cystic fibrosis is a hereditary disease, therefore for babies born in families with a history of the disease, it is recommended that they be screened at birth and be subjected to genetic testing and analysis to establish if they have the condition (Murphy, Schubert, 2005). Additionally, testing of the sweat is done. Newborns with the condition, once screened at birth, show a higher concentration of the hormone immunoreactive trypsinogen. Once the level of this hormone is abnormal, the child is then subjected to a salt test to confirm the cystic fibrosis diagnosis. The level of immunoreactive trypsinogen can be higher than usual in individuals with a single mutation on the gene that causes cystic fibrosis called the CFTR gene, or where this gene is normal but double (Roberts, 2006). In such cases, a subject will falsely test positive, which is why the salt test is necessary to confirm the diagnosis.
The salt test involves rubbing a small amount a chemical called pilocarpine onto the person under examination to stimulate sweat production after an electrode has been attached on the arm or leg where the chemical has been applied. Sweat is then collected for analysis to test whether it has abnormally higher than normal concentrations of sodium and chloride ions. Besides the salt test, many other tests are usually carried out to determine whether the patient really has cystic fibrosis. X-ray scans are done on the lungs and the other internal organs to examine any signs of thick mucus accumulation, inflammation and damage (Davis, 1993). Sputum samples are usually examined also to determine the types of secondary infections that may have occurred so that they can be treated. There is also a need for breathing tests to investigate how affected the pulmonary system is and how well it is functioning.
The symptoms of cystic fibrosis vary from person to person and time to time and so does the severity. Some patient may develop severe indigestive effects and inhibition of lung function at a very early age while others may just suffer mild reactions or none until they become adults (Sharma, 2009). Lung function becomes affected and begins to deteriorate from early childhood and could become adversely affected causing difficulty in breathing as a matter of fact it is lung failure that causes most deaths related to cystic fibrosis. However, as medical solutions to combat the disease become more advanced, most cystic fibrosis victims are living into their forties and even fifties.
Treatment and management of cystic fibrosis
As is the case with most hereditary diseases, there is still no cure for cystic fibrosis. It is just that as medical technology has been advancing rapidly, treatments have become more effective. The objective of remedial measures against this disease are aimed at preventing or managing infections occurring in the lungs , to loosen and expel the thick mucus retained in the lungs and other internal organs and to unblock the small intestines (Roberts, 2003). To combat malnourishment caused by an inefficient digestive system, secondary measures are adopted to supplement the nutritional requirements of the patient.
People having cystic fibrosis have recurrent infections in the lungs. Depending on the bacterial strain involved and the severity of the infection, the appropriate antibiotics are prescribed to the patient. Because of congestion in the lungs, percussions (Chest Physical Therapy) are performed several times per day. It involves pounding the patients chest and backside repeatedly so that the sticky mucus lodged in the lungs and breathing tubes can bee loosened up and coughed out (Davis, 1993). The patient should be lying on his or her stomach so that gravity can aid in the expulsion of the mucus. In addition to these, people with cystic fibrosis are advised to exercise regularly to strengthen their respiratory system.
As lung function and tolerance to physical exercises declines, the only option left for patients is to get a lung transplant (Murphy, Schubert, 2005). In ordinary transplantation routines, patients usually get a single lung, but for patients of cystic fibrosis, it becomes necessary to replace both lungs as the lung left could have infectious bacteria that could infect the new lung. It may be necessary to also give the patient a new liver andor pancreas to minimize the chances of getting liver disease and diabetes. Gene therapy is still being touted as a possible cure for this disease, whereby a healthy gene is placed on the mutated genes.
An overview of cystic fibrosis
In normal body operations, mucus is produced on the linings of most bodily tissues to keep them moist because the drying up of the tissues causes irritation, making them prone to infections (Murphy, Schubert, 2005). Under normal circumstances, mucus secreted is slippery and watery but if a person has cystic fibrosis, mucus produced is thick and very sticky. It then builds up and blocks the passage of air in the lungs and causes congestion in other body organs creating an environment conducive for the accumulation and multiplication of bacteria (Sharma, 2009). The resultant repeated infections severely damage the lungs in the long run. In the liver and pancreas, this sticky mucus blocks the tubes and ducts that from the passages of enzymes produced here and also the waste products of metabolism.
The pancreas produces enzymes that are required for the digestive process in the small intestines. Due to the blockages caused by thicker-than-normal mucus, these vital enzymes cannot reach the small intestines (Roberts, 2003). Therefore a patient of cystic fibrosis exhibits deficiency of vital nutritional entities like vitamins and proteins, becoming severely malnourished. Indigestion also occurs because of non-exhaustive digestion leading to constipation, the excretion of bulky stool and the accumulation of gases in the intestines.
Cystic fibrosis causes the patient to excrete very salty sweat therefore losing a lot of minerals salts in the process (Sharma, 2009). When the natural balance of salts in the blood and other body fluids is upset, there results a number of serious health and metabolic anomalies. Dehydration results due to the body losing more fluids because of the decreased salt concentration leading to increased heartbeat rates, fatigue, low blood pressure, stroke and even death.
Diagnosing and monitoring cystic fibrosis
Cystic fibrosis is a hereditary disease, therefore for babies born in families with a history of the disease, it is recommended that they be screened at birth and be subjected to genetic testing and analysis to establish if they have the condition (Murphy, Schubert, 2005). Additionally, testing of the sweat is done. Newborns with the condition, once screened at birth, show a higher concentration of the hormone immunoreactive trypsinogen. Once the level of this hormone is abnormal, the child is then subjected to a salt test to confirm the cystic fibrosis diagnosis. The level of immunoreactive trypsinogen can be higher than usual in individuals with a single mutation on the gene that causes cystic fibrosis called the CFTR gene, or where this gene is normal but double (Roberts, 2006). In such cases, a subject will falsely test positive, which is why the salt test is necessary to confirm the diagnosis.
The salt test involves rubbing a small amount a chemical called pilocarpine onto the person under examination to stimulate sweat production after an electrode has been attached on the arm or leg where the chemical has been applied. Sweat is then collected for analysis to test whether it has abnormally higher than normal concentrations of sodium and chloride ions. Besides the salt test, many other tests are usually carried out to determine whether the patient really has cystic fibrosis. X-ray scans are done on the lungs and the other internal organs to examine any signs of thick mucus accumulation, inflammation and damage (Davis, 1993). Sputum samples are usually examined also to determine the types of secondary infections that may have occurred so that they can be treated. There is also a need for breathing tests to investigate how affected the pulmonary system is and how well it is functioning.
The symptoms of cystic fibrosis vary from person to person and time to time and so does the severity. Some patient may develop severe indigestive effects and inhibition of lung function at a very early age while others may just suffer mild reactions or none until they become adults (Sharma, 2009). Lung function becomes affected and begins to deteriorate from early childhood and could become adversely affected causing difficulty in breathing as a matter of fact it is lung failure that causes most deaths related to cystic fibrosis. However, as medical solutions to combat the disease become more advanced, most cystic fibrosis victims are living into their forties and even fifties.
Treatment and management of cystic fibrosis
As is the case with most hereditary diseases, there is still no cure for cystic fibrosis. It is just that as medical technology has been advancing rapidly, treatments have become more effective. The objective of remedial measures against this disease are aimed at preventing or managing infections occurring in the lungs , to loosen and expel the thick mucus retained in the lungs and other internal organs and to unblock the small intestines (Roberts, 2003). To combat malnourishment caused by an inefficient digestive system, secondary measures are adopted to supplement the nutritional requirements of the patient.
People having cystic fibrosis have recurrent infections in the lungs. Depending on the bacterial strain involved and the severity of the infection, the appropriate antibiotics are prescribed to the patient. Because of congestion in the lungs, percussions (Chest Physical Therapy) are performed several times per day. It involves pounding the patients chest and backside repeatedly so that the sticky mucus lodged in the lungs and breathing tubes can bee loosened up and coughed out (Davis, 1993). The patient should be lying on his or her stomach so that gravity can aid in the expulsion of the mucus. In addition to these, people with cystic fibrosis are advised to exercise regularly to strengthen their respiratory system.
As lung function and tolerance to physical exercises declines, the only option left for patients is to get a lung transplant (Murphy, Schubert, 2005). In ordinary transplantation routines, patients usually get a single lung, but for patients of cystic fibrosis, it becomes necessary to replace both lungs as the lung left could have infectious bacteria that could infect the new lung. It may be necessary to also give the patient a new liver andor pancreas to minimize the chances of getting liver disease and diabetes. Gene therapy is still being touted as a possible cure for this disease, whereby a healthy gene is placed on the mutated genes.
Categories:
0 коммент.:
Отправить комментарий