Cystic fibrosis is a disease that is continually affecting children and adults in the United States. This is an inherited and life-threatening disease which affects many organs in the body. According to the Center for Disease Control, there are an estimated 30,000 people affected by this disease today. There are also approximately 2,500 babies born each year with Cystic fibrosis and unfortunately there are millions of people unaware they even carry the gene for this disease.
Cystic fibrosis is an inherited, chronic disease of the secretory glands which directly affects the lungs and digestive system (NLM, 2015). To look more closely at a cellular level, there is a defective gene in which their protein product that regulates movement of sodium
…show more content…
The signs and symptoms seen in each patient is different and vary greatly depending on the severity and stage of the disease. The respiratory system creates thick mucus that clogs the tubes blocking for the lungs ability to carry air in and out. Signs and symptoms possibly seen include a persistent cough capable of producing thick mucus, wheezing, chronic lung infections, inflamed nasal passages and decreased ability to exercise or complete any tasks that require stamina for long periods of time. The digestive system is also greatly affected by the thick mucus that develops. This mucus inhibits the tubes that carry the necessary digestive enzymes from the pancreas to the small intestines. These enzymes are important in aiding in nutritional absorption. This in turn can produce greasy, foul-smelling stool, poor weight gain, poor growth and development, chronic constipation and intestinal blockage (particularly in seen in newborns). More frequent in children, rectal prolapse can occur as there is frequent straining which causes the rectum to protrude outside the …show more content…
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
The Cystic Fibrosis Foundation provides support to help improve the lives of people who live with the disease. The foundation’s main goal is to find a cure to Cystic Fibrosis is an inherited disease caused by changed in a gene on chromosome seven. It is described as a buildup of mucus in the lungs and organs. The mucus in the lungs clogs the airways and bacteria grows, gets blocked in and eventually leads to infections that causes lung damage. After lung damage has occurred, respiratory failure then happens.
Cystic Fibrosis is a genetic disease that causes the body’s lungs to generate a different type of mucus than a non-infected body would. The contaminated lungs will produce mucus that is thick and adhesive which clogs the lungs and leads to an unpleasant and abhorrent lung infection. CF also interferes with the pancreas, disallowing the digestive enzymes from breaking down and absorbing food in the intestine. This can result in low nutrition, feeble growth, excessive sweat production, difficulties in breathing, and sometimes lung disease. When producing extra sweat and mucus, the body loses salt. If too much salt is lost, it can cause abnormal heart rhythms, disturbance of minerals in the blood, and perhaps, shock.
According to the Cystic Fibrosis Foundation (CFF), their 2012 patient registry polling indicated cystic fibrosis as a genetic disease affecting over 30,000
This mucus build up also causes wheezing and difficulty breathing. Recently, it has become more common for individuals with cystic fibrosis to receive lung transplants during the end stages of lung disease. As mentioned, the symptoms of cystic fibrosis are life threatening, and the majority of deaths are the result of respiratory failure after battling lung diseases and infections that come as a result of the mucus build up. The life expectancy for an individual with cystic fibrosis ranges in the mid-thirties. Another symptom that comes as a result of cystic fibrosis is digestive issues. The thick mucus that affects the respiratory tract also often blocks the tubes that are crucial to digestion because they carry digestive enzymes. Without these digestive enzymes being transported to the small intestine, individuals with cystic fibrosis cannot fully absorb the nutrients they eat. These digestive issues lead to reduced weight gain and growth in individuals with cystic fibrosis as well as severe constipation. In some cases, the large intestine may begin to protrude, a symptom referred to as rectal prolapse, and may need to
Cystic Fibrosis is a genetic disease. A person with CF has inherited two copies of the defective CF gene. One copy of the defective gene is inherited through each parent. A person with only one of these defective genes is considered a carrier but does not have CF. When two carriers have a child, there is a 25% chance the child will
Children are usually diagnosed with Cystic Fibrosis at an early age of just 2. Children will start to show early signs of the disease. They will start to feel pain in the lower abdomen and start having extreme episodes of nausea. Cystic Fibrosis is a deadly disease because of all the mucus that is being built up in the lungs. The life expectancy for someone with this disease is usually 37; the number has risen over the past few years with new technology and medicines coming to light. Since the disease has no cure, it takes a huge toll on home life and the family finances because of the advanced treatment planes. Cystic fibrosis is a defective gene disorder,
Cystic Fibrosis, or CF, is a genetic disease that affects children to young adults. It occurs when a child has two defective copies of the gene that causes cystic fibrosis, one from each parent. The disease primarily affects the digestive system and it also affects the respiratory system, mainly the lungs bronchi and bronchioles. Cystic fibrosis affects the cells that produce mucus and digestive juices, as it changes the protein that regulates the movement of salt in and out of cells. Which leads to people thick and sticky mucus and digestive juices, such as pancreatic juices. Whereas people who do not have CF have thin and slippery mucus and digestive juices. The severity of the disease differs from one person to the next, yet the
Cystic fibrosis is an inherited disorder with no possible cure [as of now]. This life-
Cystic Fibrosis affects over 50,000 people in the United States, Canada and Europe (3). One in every twenty Americans are carriers of Cystic Fibrosis, approximately twelve million people are unaware they are carriers (3). Cystic Fibrosis is autosomal recessive inherited disease that causes chronic respiratory and digestive problems (3). Additionally, Cystic Fibrosis affects the sweat glands and the reproductive system (2).
Cystic fibrosis is an autosomal recessive genetic disorder characterised by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) protein which acts as a chlorine channel that regulates water and ion levels across the epithelia. Cystic fibrosis can affect sweat glands, the respiratory system, digestive system and the reproductive system. In the lungs defects in the CFTR protein results in airway surface liquid depletion, triggering a cascade of events resulting in infection and inflammation [1]. This essay will discuss the molecular mechanisms involved in cystic fibrosis and outline the symptoms and possible treatment available and being developed.
Cystic Fibrosis (CF or CFTR) is a life threatening disease that causes the buildup of thick and sticky mucus in many organs and body systems, and the mutated genes are passed down from parent to child. It affects about 30,000 people in the US, about 5% of the U.S Population carries the disease, but they do not have it. CF is most commonly present in Caucasians and some Hispanic. CF is less common in African Americans and Asians. Although cystic fibrosis is rare in most race, if it is inherited, it can life threatening when it isn’t treated in the early stages.
Cystic fibrosis is the most common lethal genetic disease that affects children and young adults. The disease is inherited and mainly affects the lungs and the digestive system. It is estimated that there is one case of cystic fibrosis in the country in every 3,600 children. More than 4,100 children and young adults suffering from cystic fibrosis attend specialized cystic fibrosis clinics (Horsley, Cunningham, & Innes, 2015).
Have you ever heard of cystic fibrosis? If so, do you know what it is? Well, cystic fibrosis is an acquired issue that causes extreme harm to the lungs and digestive framework. Cystic fibrosis influences the cells that deliver bodily fluid, sweat and digestive juices. These discharged liquids are regularly thin and elusive. Be that as it may, in individuals with cystic fibrosis, a damaged quality causes the discharges to end up thick and sticky. Rather than going about as a grease, the emissions attachment up tubes, channels and ways, particularly in the lungs and pancreas. Although, cystic fibrosis requires day by day consideration, individuals with the condition can go to class and work, and have a superior personal satisfaction than in
Cystic Fibrosis (CF) is an autosomal recessive gene that causes a wide range of symptoms because there are over 1,000 changes or mutations that can occur within the cystic fibrosis transmembrane receptor (CFTR) protein. The CFTR protein is generally a chloride ion chain “regulated by cyclic adenosine monophosphate and therefore can act as a regulator of other electrolyte channels”(Grossman, S., & Grossman, L. 2005, p. 46). Typically this protein allows chloride ions to exit mucus-producing cells allowing water to flow in and thin the mucus. However, if the CFTR protein has been mutated, such as in cystic fibrosis, chloride ions cannot exit. This causes the mucus to thicken, become sticky, and obstruct the various channels it passes through. This build up of mucus also prevents bacteria from being cleaned from cells thoroughly increasing the patients risk for infections (Grossman, S., & Grossman, L. 2005). However, the severity of CF depends on whether the patients have complete or partial loss of the CFTR gene. If the person has the classic form of CF abnormalities of CFTR will commonly affect “…the respiratory, gastrointestinal, endocrine and metabolic, and genitourinary systems”(Schram, C. 2012). However, if people have atypical forms of CF their genetic disorder may only affect one of the organ systems and may not be found until the patient develops symptoms in their late childhood, early adolescence, or adulthood
This is a great improvement over survival rate of the 1950s with the life expectancy of 1 year or less for cystic fibrosis patients. Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the disease themselves. If each parent is a non-affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non-affected, non-carrier child and 50 percent chance of having a child that is a non-affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having a child affected by cystic fibrosis. This makes prenatal genetic screening very important.