Cystic Fibrosis Research Paper
Cystic Fibrosis
Julie LeBeau
Mildred-Elley
BIO 210
February 20, 2014 Cystic Fibrosis
Cystic Fibrosis is a fatal genetic disorder that effect’s many organ systems in the body. It is estimated that CF effects 30,000 adults and children in the United States, with approximately 1,000 new cases diagnosed each year. Cystic Fibrosis is most prevalent among white but affects all ethnic groups. Cystic Fibrosis results from an autosomal recessive gene mutation of the Cystic Fibrosis transmembrane conductance regulator (CFTR) protein located on chromosome 7. The CFTR gene makes a protein that controls the movement of salt and water in an out of your body’s cells. Normally secretions from the body’s exocrine glands (sweat, tears, saliva, …show more content…
digestive juices, and mucus) are thin and slippery. People with CF there secretions are thick and prevent proper functioning of several organs.
Cystic Fibrosis is inherited by one or both parent’s every person inherits two CFTR genes, one from each parent.
Children who inherit a faulty CFTR gene from each parent will have CF. Children who inherit one faulty CFTR gene and one normal CFTR gene are ‘CF carriers’. CF carriers usually have no symptoms of CF and live normal lives, however they can pass the faulty CFTR gene to their children.
Signs & Symptoms
One of the first signs of CF that parents may notice is that their baby’s skin tastes salty when kissed, or the baby doesn’t pass stool when first born. CF signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. In some children, symptoms begins during infancy others may not experience any symptoms til adolescence or adulthood.
Some respiratory signs include thick salty mucus clogging the tubes that carry air in and out of our lungs. This can cause, a persistent cough that produces mucus, wheezing, breathlessness, and repeated lung infections. Respiratory complications include, bronchiectasis, chronic infections, nasal polyps, pneumothorax, collapsed lung, respiratory failure and coughing up …show more content…
blood.
Some digestive signs and symptoms include, The thick mucus can block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these enzymes your intestines can’t fully absorb the nutrients in the food you eat. A result of that there is foul-smelling greasy stools. Poor weight gain and growth also intestinal blockage particulary in newborns and severe constipation. Other complications include, Nutritional deficiencies, diabetes, rectal prolapse and blocked bile ducts. There’s also complications with the reproductive organs, men are infertile and women may be less fertile than the average woman.
Diagnosis
There’s a couple different ways to test for CF, the first test they always do is a newborn screening. They take a sample of blood to check for higher levels of chemical IRT being released by the pancreas. Some newborn levels are high because of premature birth or a stressful delivery, so other tests are needed to diagnosis of CF. A sweat test is done to see if its saltier than normal, genetic DNA sample blood, saliva can be checked for specific defects on the gene responsible for cystic fibrosis. A chest x-ray can be done to look for whether your lungs are inflamed or scarred or whether they trap air. A sinus x-ray shows signs of sinusitis a complication of CF. Lung function test, measures how much air you can breath in an out , how fast you can breath air out and how well your lungs deliever oxygen to your blood. A sputum culture test will take a sample of your sputum to see whether bacteria are growing in it and if it’s a bacteria called mucoid pseudomonas, which is a more advanced CF and needs aggressive treatment.
Treatment
There is no cure for Cystic Fibrosis, but treatment can ease symptoms and reduce complications.
Goals of treatment include preventing and controlling lung infections, loosening and removing mucus from the lungs, preventing and treating intestinal blockage and providing adequate diet. There are antibiotics to treat and prevent lung infections, anti- inflammatory medications to help reduce the swelling in your airways due to infections. You may need pulmonary rehabilitation such as exercise training, nutritional counseling, breathing strategies and psychological counseling or group support. They may need mucus thinning drugs to improve lung function, or a bronchodilator which opens your airways to breathe better or an oral pancreatic enzyme to help digest fats and proteins and absorb more vitamins. Once you find out you have CF you and your doctor will come up with a plan to help you handle your Cystic
Fibrosis.
Lifestyle
Living with CF is a daily task, there is always something to take for the way your body is feeling that day. Some people go to care centers everyday others go once a week to see there doctor to be checked or treated. The doctor wants you to have good health care and a healthy diet as part of your daily chores. Some go to therapy for emotional issues with living with CF.
There are always clinical trials going on as long as they have people who want to volunteer for the new treatment. They are going to continue with their research in finding a cure for all the symptoms of Cystic Fibrosis.
References
Wiehe, Melissa, RN, BSN & Arndt, Karri, CRNA,MS (2010) AANA Journal .Volume 78, No, 3
National Heart, Lung and Blood Institute. http://www.nhlbi.nih.gov/health (2012) March
National Library of Medicine. http://ghr.nlm.gov/condition/cystic-fibrosis (2012) April
Cohen-Cymberknoh M, et al. Managing cystic fibrosis. AJ of Respiratory and Critical care medicine. (2011); 183;146
Rogan MP, et al. Cystic Fibrosis transmembrane conductance regulator intacellular processing. Chest. (2011) ;139;1480
Julie LeBeau
Mildred-Elley
BIO 210
February 20, 2014 Cystic Fibrosis
Cystic Fibrosis is a fatal genetic disorder that effect’s many organ systems in the body. It is estimated that CF effects 30,000 adults and children in the United States, with approximately 1,000 new cases diagnosed each year. Cystic Fibrosis is most prevalent among white but affects all ethnic groups. Cystic Fibrosis results from an autosomal recessive gene mutation of the Cystic Fibrosis transmembrane conductance regulator (CFTR) protein located on chromosome 7. The CFTR gene makes a protein that controls the movement of salt and water in an out of your body’s cells. Normally secretions from the body’s exocrine glands (sweat, tears, saliva, …show more content…
digestive juices, and mucus) are thin and slippery. People with CF there secretions are thick and prevent proper functioning of several organs.
Cystic Fibrosis is inherited by one or both parent’s every person inherits two CFTR genes, one from each parent.
Children who inherit a faulty CFTR gene from each parent will have CF. Children who inherit one faulty CFTR gene and one normal CFTR gene are ‘CF carriers’. CF carriers usually have no symptoms of CF and live normal lives, however they can pass the faulty CFTR gene to their children.
Signs & Symptoms
One of the first signs of CF that parents may notice is that their baby’s skin tastes salty when kissed, or the baby doesn’t pass stool when first born. CF signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. In some children, symptoms begins during infancy others may not experience any symptoms til adolescence or adulthood.
Some respiratory signs include thick salty mucus clogging the tubes that carry air in and out of our lungs. This can cause, a persistent cough that produces mucus, wheezing, breathlessness, and repeated lung infections. Respiratory complications include, bronchiectasis, chronic infections, nasal polyps, pneumothorax, collapsed lung, respiratory failure and coughing up …show more content…
blood.
Some digestive signs and symptoms include, The thick mucus can block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these enzymes your intestines can’t fully absorb the nutrients in the food you eat. A result of that there is foul-smelling greasy stools. Poor weight gain and growth also intestinal blockage particulary in newborns and severe constipation. Other complications include, Nutritional deficiencies, diabetes, rectal prolapse and blocked bile ducts. There’s also complications with the reproductive organs, men are infertile and women may be less fertile than the average woman.
Diagnosis
There’s a couple different ways to test for CF, the first test they always do is a newborn screening. They take a sample of blood to check for higher levels of chemical IRT being released by the pancreas. Some newborn levels are high because of premature birth or a stressful delivery, so other tests are needed to diagnosis of CF. A sweat test is done to see if its saltier than normal, genetic DNA sample blood, saliva can be checked for specific defects on the gene responsible for cystic fibrosis. A chest x-ray can be done to look for whether your lungs are inflamed or scarred or whether they trap air. A sinus x-ray shows signs of sinusitis a complication of CF. Lung function test, measures how much air you can breath in an out , how fast you can breath air out and how well your lungs deliever oxygen to your blood. A sputum culture test will take a sample of your sputum to see whether bacteria are growing in it and if it’s a bacteria called mucoid pseudomonas, which is a more advanced CF and needs aggressive treatment.
Treatment
There is no cure for Cystic Fibrosis, but treatment can ease symptoms and reduce complications.
Goals of treatment include preventing and controlling lung infections, loosening and removing mucus from the lungs, preventing and treating intestinal blockage and providing adequate diet. There are antibiotics to treat and prevent lung infections, anti- inflammatory medications to help reduce the swelling in your airways due to infections. You may need pulmonary rehabilitation such as exercise training, nutritional counseling, breathing strategies and psychological counseling or group support. They may need mucus thinning drugs to improve lung function, or a bronchodilator which opens your airways to breathe better or an oral pancreatic enzyme to help digest fats and proteins and absorb more vitamins. Once you find out you have CF you and your doctor will come up with a plan to help you handle your Cystic
Fibrosis.
Lifestyle
Living with CF is a daily task, there is always something to take for the way your body is feeling that day. Some people go to care centers everyday others go once a week to see there doctor to be checked or treated. The doctor wants you to have good health care and a healthy diet as part of your daily chores. Some go to therapy for emotional issues with living with CF.
There are always clinical trials going on as long as they have people who want to volunteer for the new treatment. They are going to continue with their research in finding a cure for all the symptoms of Cystic Fibrosis.
References
Wiehe, Melissa, RN, BSN & Arndt, Karri, CRNA,MS (2010) AANA Journal .Volume 78, No, 3
National Heart, Lung and Blood Institute. http://www.nhlbi.nih.gov/health (2012) March
National Library of Medicine. http://ghr.nlm.gov/condition/cystic-fibrosis (2012) April
Cohen-Cymberknoh M, et al. Managing cystic fibrosis. AJ of Respiratory and Critical care medicine. (2011); 183;146
Rogan MP, et al. Cystic Fibrosis transmembrane conductance regulator intacellular processing. Chest. (2011) ;139;1480