Medical Genetics: Cystic Fibrosis

Cystic Fibrosis (CF) is a common genetic disorder that affects the exocrine gland in the lungs, liver, pancreas, and intestines causing progressive disability due to multisystem failure. It is also known as “mucoviscidosis because of the mucus that builds up and blocks the respiratory system and pancreas”(Bedwell). Cystic Fibrosis affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. With them becoming so thick and sticky they can plug up tubes, duct, and passageways. Unfortunately, there is no real cure for Cystic Fibrosis. “Although, the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. New developments in prevention of exacerbations, therapy drugs and methods to preserve

The main goal of any treatment for someone who has cystic fibrosis is to prevent and/or control lung infections, loosen and remove the mucus build up in the lungs, prevent and treat intestinal blockage and ensuring proper and adequate nutrition. If the treatment includes medications, antibiotics would be used to treat and/or prevent lung infections. To help get the mucus up and out of the lungs, mucus-thinning drugs will be used to improve lung function. By relaxing the muscles around the bronchial tubes, bronchodilators can help keep the airway open. Lastly are oral pancreas enzymes which help the digestive tract absorb nutrients. Non-medication treatments include chest physical therapy which helps the thick mucus loosen and in turn makes it easier to cough up. There is also something available called pulmonary rehabilitation which is something that can help improve lung function in an outpatient setting and this may include exercise training, nutritional education, breathing techniques to conserve energy and counseling and/or support groups. There are also several surgical procedures that can improve quality of life for patients with cystic fibrosis. These in removal of any nasal polys to help breathing, oxygen therapy to help prevent pulmonary hypertension or high blood pressure in the lungs, endoscopy and lavage treatments to

Cystic fibrosis is a hereditary disease of the secretory glands (National Heart, Lungs, and Blood Institute[NHLBI] , "What Is Cystic Fibrosis?", 2013). People who have cystic fibrosis inherit two defective genes, one from each parent (NHLBI , "What Is Cystic Fibrosis?", 2013). The body parts affected by cystic fibrosis are the lungs, pancreas, intestines, sinuses, and sex organs (NHLBI , "What Is Cystic Fibrosis?", 2013). The gene at fault for causing cystic fibrosis is the CFTR (cystic fibrosis transmembrane conductance regulator) gene (Genetics Home Reference, "CFTR gene", 2014). The transport of salts and chloride in and out of the cells is affected by the mutation of this gene (Cystic Fibrosis Research Inc., "About Cystic Fibrosis"). This disease most commonly affects Caucasians of North European descent (NHLBI , "What Is Cystic Fibrosis?", 2013).

Cystic fibrosis affects many of the body’s systems this includes the lungs and digestion. If you have CF your mucus becomes thick and sticky. It builds up in your lungs and blocks your airways. The mucus blocks the air passages in the lungs and creates bacteria. Numerous infections and blockages can cause permanent lung damage and death. Sticky mucus can also block tubes or ducts in

Cystic fibrosis is a disorder that causes severe damage to the respiratory and digestive system. (Saint Francis Medical Center) It is caused by an inherited defective gene from both parents, specifically the CFTR gene, which causes the cells to overproduce mucus, digestive juices, and sweat. Normally, the fluids that are secreted are slippery and thin. However, with cystic fibrosis, the defect in the gene causes thick and sticky secretions. Instead of the secretions having lubricant properties, it clogs up tubes, passageways, and ducts, especially in the pancreas and lungs.

There are many treatments for cystic fibrosis. First treatment the patient can get is air way clearance. Air way clearance help loosen and get rid of the thick mucus that can build up in the lungs. The second treatment they can use is the pancreatic enzyme supplement. These treatment capsules helps improves the absorption of vital nutrients. These supplements are taken with every meal and most

Cystic fibrosis is a rare life threatening disease, that as of now has no cure. But with help from extensive research that is being conducted, there is soon to be a cure in the future for this disease. The disease attacks the digestive system and slowly over time shuts down the lungs.

Cystic fibrosis is life threatening, progressive and genetic disorders that cause severe damage to the lungs and digestive systems. About 30,000 children’s and adults in the United States are affected by this chronic disease. Cystic fibrosis is an inherited condition which affects the body’s exocrine glands (mucus secretion glands). The secreted fluids such as mucus, sweat and digestive juices are normally thin and slippery. The secretions become thick and sticky in those people who are affected by cystic fibrosis. So the secretions plug up tubes, ducts, and passageways instead of acting as a lubricant. Therefore it is a life threatening disease since the secretions block the passageways especially in the lungs and pancreas. People with this disease are able to attend school and work but they require daily care. The treatments for this disease are getting better but there is no cure for this disease. The life spans of patients are 20s and 30s and some patients live up to their 40s and 50s. There is 25 percent chance of developing cystic fibrosis; if both the parents carry recessive gene but they do not have the disease. A 50 percent chance is there that the child will carry the gene but do not have the disease. And there is 25 percent chance that the child can be totally unaffected for the children of the couple who carry recessive gene.

With regards to the respiratory system, CF patients are required to wear a chest wall oscillator once daily for 30 minutes to mechanically agitate the mucus build up that they would otherwise not be cough up. On top of the “vest” treatment, they also must take anti-inflammatories and antibiotics regularly to prevent infection and inflammation. As for the GI tract, no mechanical treatment is available, so patients must ingest digestive enzyme supplements that the pancreas cannot deliver naturally. In some cases patients develop CF related diabetes, as the pancreas is also responsible for providing the body with insulin to regulate blood sugar concentrations. On top of these treatments, people with CF must boost the amount of calories and salts in their diets to compensate for the malnourishment and for the amount of salt released by the patients

Cystic Fibrosis, otherwise known as CF, is an inherited genetic disease that affects the lungs and digestive system. The disease causes a build-up of thick mucus in the lungs and other organs. Mucus clogs the airways in the lungs and “traps bacteria, leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.” (#1)

Since they have an excessive amount of mucus in their lungs, it causes them to not eat and lose a large amount of weight. Today, we have different treatment options pertaining to each individual with the disease. One treatment plan is the airways clearance, where a patient wears an inflatable vest that vibrates the chest area. This helps loosen up the lungs and lowers the mucus count in the lungs. Another form of treatment is vaccination. Cystic Fibrosis opens up a patient to a widespread of infections, since there bodies cannot fight off infections. Giving vaccines that prevent pneumonia or the flu can save the patient from developing these infections. Lastly, prescribing antibiotics and cough medicine. Since the lungs are always filled up with mucus, the patient is always prone to coughing because of all the buildup. Cough medicine will reduce the periods of coughing and clear up some of the mucus built up. This disease is extremely deadly if the right medications and treatment plans are not administered properly.

There is no cure for cystic fibrosis, but medication can be provided to help ease the symptoms that accompany the disease. Things like antibiotics can treat and prevent lung infections. A person can also take mucus thinning drugs that help to improve lung functions, by helping you cough out the mucus. Furthermore, a person can also take in pancreatic enzymes that help to digest food in the small intestines and stomach. If a person’s intestine folds in on itself, then the person would have to have surgery that removes the part of the intestine. If the blockages in the ducts in the lungs become resistant to medication, or antibiotics, then the person might need to have a lung transplant. Cystic fibrosis does not occur in the set of lungs that have been transplanted into

Cystic fibrosis is an inherited disease that ultimately leads to death. It affects every racial group worldwide, but its prevalence varies from country to country. In those with cystic fibrosis, the lungs and digestive system are primarily affected by the disease. With the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. The new developments in prevention of exacerbations, therapy drugs and methods to preserve lung function have done great things to help patients extend their lives.

Abstract: The main goal of this paper is to explain what Cystic Fibrosis is and also to explain what

Cystic fibrosis is an inherited disease that ultimately leads to death. It affects every racial group worldwide, but its prevalence varies from country to country. In those with cystic fibrosis, the lungs and digestive system are primarily affected by the disease. With the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. The new developments in prevention of exacerbations, therapy drugs and methods to preserve lung function have done great things to help patients extend their lives. Education is another important aspect of treating cystic fibrosis. For example, more the