Cystic fibrosis is an inherited disorder with no possible cure [as of now]. This life- threatening disorder happens when there’s a mutation in the CFTR (Cystic Fibrosis
Transmembrane Conductance Regulator) gene on chromosome 7. It is an autosomal recessive gene, which means that the mutated gene must be inherited from both parents. It is a very complex disease since it affects various parts of the body. The gene mutation causes a defect of a protein in the cell membrane. This gene disturbs the function of the chloride channels, restricting them from governing the flow of chloride ions and water in and out of cells. Chloride ions help control the movement of water in tissues, which helps the production of free flowing mucus.
Free flowing
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But this defective gene causes the secretions that produce mucus, sweat and digestive juices to become thick and sticky, plugging up the tubes, ducts, and passageway. It causes severe damage to the lungs and digestive system. It also affects the intestines, liver, lungs, pancreas, sex organs and sinuses. The result, a disease of the secretory glands.
Symptoms of cystic fibrosis can start as early as a newborn baby; blocked intestine at birth, salty tasting or sweaty skin, unusual bowel movements, and breathing problems are just a few. Polyps in the nose or sinuses, coughing up mucus that may contain blood, rectal prolapse, and infertility are symptoms that may come later in life. There are exams and tests that could and should be taken if any of the symptoms arise. A positive newborn screening test, physical exam, genetic testing, two positive sweat tests, and an abnormal nasal potential difference test should be done, especially if the parents already have a child that has been diagnosed with cystic fibrosis. There is about 30,000 people, children and adults, living with cystic fibrosis in the United
States. If both parents are carriers of this mutated gene, their child will have a 25% chance
Abstract: The main goal of this paper is to explain what Cystic Fibrosis is and also to explain what
Organs that are affected by cystic fibrosis include the lungs, pancreas, liver, sweat glands, reproductive organs, nose and sinuses. The symptoms of cystic fibrosis include coughing with mucus coming up, wheezing, breathlessness, decrease in ability to exercise, lung infections, inflamed nasal passages, stuffy nose, bad growth, intestinal blockage, severe constipation and greasy foul smelling stool.
Cystic fibrosis generally affects mainly the lungs, pancreas, liver, intestines, sinuses, and the sex organs. People who have cystic fibrosis can have a variety of symptoms. Some people may only go through a few of them. Though, other people may go though more symptoms that later on can become very severe. One of the earliest symptom of cystic fibrosis that can be noticed beforehand is that the skin of a baby will have a salty taste when kissed. The rest of the symptoms happen later overtime as they start growing up. They affect the respiratory, digestive and reproductive system. One of the signs of cystic fibrosis in the respiratory system is the thick, sticky mucus that blocks the airways. Which causes bacteria to start growing and other infections too. This can also lead to frequent coughing, wheezing noises, and lung infections. Other problems may occur like sinusitis, bronchitis, and pneumonia, these can cause serious damage to the lungs. Cystic fibrosis affects the digestive system in many ways
Cystic fibrosis (CF) is a lethal autosomal recessive disorder with a clinical incidence of 1 in every 3500 newborns1. Currently, over 4000 Canadians have CF, with 60% being adults2. In the past, CF was considered a fatal disease with a life expectancy of less than two years, however, advances in enzymatic and antibiotic therapy have greatly improved the life expectancy of patients afflicted with CF3. Currently, the median age of Canadian CF patients is 50 years2.
Cystic fibrosis is an genetic disease that can cause bad damage to the lungs and other organs in the body. It is a common genetic (Gene) disease affecting to geriatric, (adults) young adults, or and kids. Now they’re still searching for a cure, but the only thing that is currently available is a donor’s lungs.
In infants symptoms include coughing, wheezing, excess mucus in the lungs, shortness of breath, extremely salty skin and decelerated growth. With infants it is very common for them to develop pneumonia infections because of all the bacteria that resides in the lungs. With treatment, most patients with cystic fibrosis live into their 20’s and 30’s, some individuals with milder cases can live longer. Death is most often due to end-stage lung disease.Thus far no cure for the disease has been found. Although, research on gene therapy is promising. Treatment is generally aimed at alleviating symptoms, preventing infections, and slowing the progress of the disorder. (Egan’s 10th Ed,
This genetic disease is found to affect over 30,000 people with additions of nearly 1,000 people diagnosed every year. The prevalence of individuals with cystic fibrosis in the U.S. has decreased and major medical developments have helped to increase the life expectancy of those with the disease now as compared to 10 years ago (MacKenzie 237). The average age of diagnosis is around 6-8 months, whereas roughly two thirds of patients are diagnosed within their first year of birth. Unlike some genetic conditions, cystic fibrosis is not sex linked and as a result, occurs equally as often in men as in women. The severity and variation of symptoms differs from one individual to the next. However, research has found that females with cystic fibrosis have a “shortened life expectancy relative to men” because they “become colonized with certain common CF pathogens earlier than men and show a decreased life expectancy” due to the early onset of respiratory infections (Harness-Brumley 1013). In addition, research suggests that there is a high rate of bone related diseases in co-occurrence with cystic fibrosis. It is found that “individuals with cystic fibrosis fail to demonstrate normal bone calcium accretion” due to insufficient intake and absorption of nutrients (Boyle 455). The multiple factors contributing to bone disease include malnutrition, vitamin and mineral malabsorption, recurrent infections, and lack of exercise” can lead to osteoporosis if left untreated (Boyle
“About 1 in 4,000 children in the United States are born with CF” (Crosta, 2009) and “one in every 3,600 children born in Canada [have] cystic fibrosis” ("Cystic fibrosis Canada," 2011). According to several resources a consensus has formed which proposes that people with northern European ancestry, specifically those that are white, are more likely to be carriers of the disease and thus more at risk of having children with the mutated gene. This risk is even more likely if the other parent of the child is a carrier. Another risk factor for CF is “family history, since the disease is hereditary it increases they likely hood of
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.
Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States today. CF is an autosomal recessive disease that occurs approximately one out of 3,300 live births (Cystic Fibrosis Foundation, 1998). Autosomal means that the gene for CF is not carried on the sex chromosomes and males and females are both afflicted
Cystic Fibrosis is a disease that affects the body in many ways throughout the patient's life. Newborns with Cystic Fibrosis may experience delayed growth, inability to gain weight, and salty-tasting skin ("Cystic," umm.edu 1). Older patients may be infertile, have recurring pancreatitis, and respiratory problems ("Cystic," umm.edu 2). Considering that these are just symptoms involving age, the full spectrum of ailments that afflict a patient with Cystic Fibrosis is far more taxing on a patient.
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
This disease is considered as inherited disease mostly among Caucasians, where approximately 1000 new cases are recorded every year. Latinos and American Indians are among the races most likely to acquire CF by genetic characters and less prevalent among African American. Statistics from the health agencies had recorded that there are more than 10 million Americans who have faulty CF gene carriers without them knowing it (Buckingham, 2012). Based on the Changing Epidemiology of Cystic Fibrosis reported by Simmons (1992) in Journal of Pediatrics, he said that from 17,857 patients treated with cystic fibrosis Foundation demonstrated a significant shift in the age distribution of patients. The adult patient population increased and in 1990s the median age range of patients with this disorder is 12.5 years old. Statistics revealed that among the surveyed patients, 90% of those belong to age 12 was diagnosed with CF. Median survival age doubled in later years from age 14 to 28 years. Females are found to have lower median survival age than males. Etiology The main cause of cystic fibrosis is hereditary where a carrier parents may transmit the faulty CFTR to her offspring, whereas if such gene is transferred to the child, the latter has the chance of 25 percent of developing CF. Experts claimed that if the child acquired the faulty CFTR gene from only one parent, say
For starter, What kind of disease is cystic fibrosis? Cystic fibrosis (CF) is an autosomal recessive disease of altered Cl- transportation which has a smaller prevalence in African Americans, Hispanics and Asian (O’Sullivan and Freedman, 2009). Since it is an autosomal disease, every cystic fibrosis patient needs to have two abnormal CFTR gene to manifest the characteristic of this disease. Cystic fibrosis is also the most common autosomal recessive disease in Caucasians with Northern European heritage (Oates and AMOS, 1994).
Cystic Fibrosis, a very serious inherited genetic disease, is also known as CF and sixty-five roses. This disease affects one in every 3,000 live births. It may first appear in a newborn, but can appear all the way up until a young adult. However, ten percent of most cases are apparent at birth. CF affects the lungs and causes a build-up of abnormally thick mucus which leads to chest infections, and CF also affects the reproductive system. Doctors do not know what causes the mucus to thicken. CF’s infections usually lead to death in childhood and early adulthood. Most people infected with CF had a life span into their teens long ago. Now, due to advanced technology, the life span is in the fifties or older.