Cystic Fibrosis is a genetic disorder primarily affecting the pulmonary and digestive systems. It is also the most common fatal recessive genetic disorder among individuals of Caucasian descent. According to Garguilo, this disorder affects cells that produce mucus, digestive, and sweat juices. These mutated cells cause the fluids that are normally thin and slippery to become unusually thick and sticky, increasing the chance of blocking blood transport passageways, particularly in the digestive and respiratory systems that can then lead to recurrent infections. People with this condition have an abnormally high level of salt in their sweat and one of the factors leading to early diagnosis is the fact that parents can taste the salt on the skin …show more content…
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
Nearly 1 in every 30 Americans are a carrier of the recessive gene that leads to CF (About Cystic Fibrosis, n.d.). Although CF is a life-threatening condition, through the advancement of treatments and care, there has been a steady increase in life expectancy and improvement in the quality of life. The current mean age of survival is now 40. Although that does not seem very high, sixty years ago, a child diagnosed with CF did not survive childhood (About Cystic Fibrosis, n.d.). CF is a complex disease, where the types and severity of symptoms can differ widely from person to person. Symptoms may include fatigue, salty-tasting skin, persistent cough with phlegm, wheezing and shortness of breath, lung infections, and poor growth and weight loss (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). Many different factors, such as the age of diagnosis, can affect an individual's health and the course of the
A widely accepted Caucasian disease has since changed; as cases of its existence are appearing in the South Asian Population (Orenstein, Rosenstein and Stern, 2000). First discovered in 1989, Cystic Fibrosis (CF) is a genetically predetermined condition, its presences is lifelong and highly complex, which is why many CF sufferers and families develop various mechanisms in order to adapt to the condition (Tippingemail, Scholes, Cox, 2010). Cystic Fibrosis causes the body to develop thick, sticky mucus which clogs the lungs and affects other organs in the body, mainly the pancreas. The layer of mucus if untreated develops in to a chronic infection which can be detrimental. The pancreas of a CF patient is most vulnerable, once the mucus has
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,
CF is broken into 6 classes of the disease. Class 1 through 3 appears to be more severe than the latter 4 through 6; which mainly result in only pancreatic deficiency. The rate of deaths due to cystic fibrosis is dependent on the class of disease and age of diagnosis which can range from 6 months old to 10 years old. The average age of survival, with treatment, in the United States is 25 years old. Abnormal secretions cause respiratory, digestive and reproductive obstructions. Respiratory failure is caused by mucous impaction of airways due to plugging, chronic inflammation and infection. Respiratory infections are the main cause of death. A person with cystic fibrosis has a persistent cough or wheeze resulting in some sputum production and reoccurring pneumonia. This excess mucus creates a chronic bronchiectasis within the lungs resulting in cyst and peripheral bullae formation. (McCance et al., 2010) Excessive coughing called coughing fits normally allow a person to clear their airways and remove the excess fluid from their lungs. However, in CF when a person has a coughing fit they produce very little mucus excretion and do not have any symptom relief. This could cause a rupture of one of the many peripheral bullae leading to pneumothorax, a collapsed lung. (McCance et al.,
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
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.
In this paper, I will talk about the symptoms, diagnosis, research, and how to live with Cystic Fibrosis. Cystic Fibrosis is a genetic disease of the secretory glands, which are the glands that make mucus and sweat, and mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.
Minimizing contact with germs is a top concern for people with CF. The buildup of mucus in the pancreas can also stop the absorption of food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children. Most people diagnosed with cystic fibrosis today are babies, thanks tonewborn screening programs. More than 75% of children with cystic fibrosis get a diagnosis by age 2. In some cases, people don’t find out they have cystic fibrosis until they’re teens or adults. Parents can also test their babies for cystic fibrosis before they’re born. Cystic fibrosis is a serious disease that can be life-threatening. But it’s different for everyone. Symptoms are mild for some people and severe for others. The good news is that most people with cystic fibrosis now live twice as long as they did 30 years ago. Today, some people are living into their 40s, 50s, or longer. Cystic fibrosis has no
Cystic fibrosis, also known as mucoviscidosis, is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys, and intestines. Some symptoms are difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms include sinus infections, poor growth, fatty stool, clubbing of the finger and toes, and infertility in males among others. Different people may have different stages of the symptoms. In the lungs the mucus stops the air ways up with bacteria leading to lung damage or maybe even respiratory failure. There is also more major symptoms like very salty tasting skin, pneumonia or bronchitis.
Cystic fibrosis is an inherited disease. It’s very common In the United States. It’s also very common amongst the Caucasian population. Its effects 1 in every 3,000 new born babies. Cystic fibrosis is less common in other ethnic groups. Effecting 1 in every 17,000 African Americans and 1 in every 30,000 Asian Americans. It causes the body to make a very thick type of mucus. The mucus is caused by an unbalance in salt in a person’s body. Leaving few to no salt and water on the outside of cells. When this happens the thin mucus that keeps the lungs free of germs becomes sticky. Cystic fibrosis effects the liver, lungs, pancreas, and the intestines. This disease makes it hard to breath and causes serious lung infections. The mucus affects the digestion by blocking the pancreas
Cystic Fibrosis (CF) is a disorder causing the body to release extremely thick and sticky mucus that clogs the lungs and pancreas, leading to problems with breathing and digestion, infection, and ultimately death. Abnormal secretion of sweat and saliva glands is also characteristic of CF. This disease a hereditary disorder of the exocrine glands that is characterized by respiratory and digestive problems and the most common inherited disease among Caucasians, affecting 3,600 live births in the Canada alone. CF affects men and women equally, but affects white people more than black people. This disease mainly affects children and young adults and is diagnosed by the age of three. Due to the advances in genetic research, diagnosis has been
Cystic fibrosis is an autosomal recessive disorder due to a defect in the cystic fibrosis transmembrane receptor, protein buildup causing thick mucus and secretions in lungs, pancreas, liver & intestines. The clinical manifestations include respiratory with recurrent lung infections (S. aureus, Pseudomonas), productive cough, dyspnea, chest pain, wheezing, the gastrointestinal with meconium ileus at birth, later failure to thrive, chronic diarrhea, systemic with infertility and heart exhaustion. Obstructive Lung disease, pancreatic insufficiency, elevated chloride in sweat diagnostic will lead to a bronchiectasis, infertility, growth delays and Meconium Ileus (MC initial presentation)
Our genetics and DNA design the entire make up of the human body. From our physical appearance to our health and mental capabilities. Parents have dominant and recessive traits that decide the genetic makeup of their offspring. More times than often the match up of the patient’s genes can pass down a genetic disorder to the offspring. One common example of an autosomal recessive disorder is cystic fibrosis. Cystic fibrosis is a genetic condition in which the lungs and digestive system become clogged with thick sticky mucus. When learning about this disorder, it is important to understand the etiology, pathogenesis, and clinical manifestations. Knowing this information will allow for an enhanced perceptive on the people who live with
Victims of Cystic Fibrosis are at a higher risk of having Osteoporosis because they cannot absorb vitamin D. They can also have an electrolyte imbalance because they have saltier sweat which upsets the balance of minerals in their blood.
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