Cystic Fibrosis Case Commentary
Cystic fibrosis (CF) is an autosomal recessively inherited condition that affects approximately 9000 patients in the UK (Rowe et al, 2005). CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Rowe et al, 2005), resulting in deficiencies in normal ion transport across cell membranes (Mall and Boucher, 2014). Abnormal ion transport causes the sputum to become dehydrated and more viscous (Mall and Boucher, 2014), leading to the airways becoming blocked and a reduction in the efficacy of the mucocilliary escalator at clearing sputum (Cystic Fibrosis Trust, 2011). This can result in the patient’s symptoms of breathlessness and recurrent infections as the sputum
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Bronchodilators have been proven to reduce bronchospasm and dyspnoea as well as increase exercise tolerance for CF patients (Heijerman et al, 2009). Antibiotics are prescribed for CF patients, both as a long-term treatment to try to prevent infections and to treat acute exacerbations when they occur (Orchard and Bilton, 2014). Vitamin and pancreatic enzyme supplements, such as Creon, are prescribed to CF patients (Cystic Fibrosis Trust, 2002) as they promote healthy growth and bone densities (Sermet-Gaudelus et al, 2011). A study by Aris et al (2003) has shown that Alendronate, as prescribed to this patient, can increase bone density in CF patients. Mucolytic agents (such as DNase) are also used to treat CF patients as they reduce the viscoelasticity of sputum, allowing easier expectoration (Heijerman et al, 2009).
Physiotherapeutic Management
Physiotherapy treatment for this patient during an acute exacerbation of CF would include airway clearance techniques and breathing control exercises, especially as sputum retention and shortness of breath are concerns for this patient (Cystic Fibrosis Trust, 2011). ACBT is a technique that is commonly used for airway clearance and to treat dyspnoea (Bradley et al, 2006). However, a review by Mckoy et al (2012) found that although ACBT was popular with patients and therapists and did improve sputum clearance, there was little or inconclusive evidence to
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
Cystic fibrosis is an existence restricting autosomal recessive disorder that influences 70,000 people around the world. The condition is known to affect principally those of European descent, though cystic fibrosis has been accounted for in all races and ethnicities. [12] Unusually viscous emissions in the airway of the lungs and in ducts of the pancreas in people with cystic fibrosis cause hindrances that prompt aggravation, tissue harm and destruction of both organ systems. Studies show that Cystic Fibrosis is more prominent in White Americans than African Americans, and Hispanics. A large number of Americans are carriers of this mutated Cystic Fibrosis gene, however if an individual is affected they must acquire two of these genes keeping
Cystic Fibrosis is a genetic disease which is progressive and limits breathing ability. The lungs and other organs are affected by a thick buildup of mucus. This mucus traps bacteria which leads lung damage, infections, and respiratory failure. The digestive enzymes being released is prevented, affecting the breakdown of food and nutrients being absorbed. ?More than 30,000 children and adults in the United States have Cystic Fibrosis. 70,000 people worldwide.? (Diagnosed With Cystic Fibrosis, Cystic Fibrosis Foundation) Someone who has Cystic Fibrosis have a defective gene from each parent which produces faulty protein. The CFTR gene is the gene that is mutated causing this. The channel that transports chloride in and out of cells is created by instructions that are created by CFTR gene. The regulation of chloride ions and water are prevented creating the thick mucus formed on the passageways of lungs, pancreas, and other organs. Cystic Fibrosis doesn?t cause learning problems are mobility of the person. Babies with this still develop and grow up normally. The average life expectancy is close to 40 years, and has been increasing in the last fifty years thanks to improved care. ?Chronic coughing, recurring chest colds, wheezing, shortness of breath, frequent sinus infections, and allergies that last all year, are the most common symptoms of Cystic Fibrosis.? (Cystic Fibrosis Symptoms) Since this disease is progressive
With the body’s inability to appropriately secrete the necessary digestive enzymes for proper function, young patients with CF usually have problems with absorbing fats, certain proteins, and fat-soluble vitamins A, D, E, and K. Digestive problems can lead to conditions such as diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, insulin shortage can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus, which consumes approximately 35% of adolescent population with cystic fibrosis (Cystic Fibrosis). Mucus plays a huge role in the reproductive systems as well, but due to the harsh mutated texture of the mucus in patients with cystic fibrosis, problems in male and female patients appear slightly differently.
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
According to the American Journal of respiratory and Critical Care Medicine, predicting the disease progression of CF is not as easy or a one risk factor
Cystic fibrosis (CF) is an inherited autosomal recessive disorder that affects the lungs and digestive system most often. In the United States some 30,000 children and adults have CF. There are approximately 1,000 new cases of cystic fibrosis diagnosed each year in the US with 70% of patients diagnosed with CF by the age of two, 40% of patients with CF are 18 or older. In the 1950's most children with CF did not survive to attend elementary school, but in 2006 the median age of survival was 37 years (Cystic Fibrosis Foundation, 2007).
Cystic Fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) which is located in the middle of chromosome 7. The CFTR gene encodes a protein of the same name. This protein functions as a “channel across the membrane of cells that produce mucus, sweat, saliva, tears and digestive enzymes” (Genetics Home Reference, 2015). The channel transports chloride ions which are negatively charged particles, in and out of cells which help in controlling the water movement in tissues to allow for the production of thin, feely flowing mucus, a substance that lubricates and lines the airways, digestive system, reproductive system and other tissues and
In the United States there are close to thirty - thousand people and seventy thousand people worldwide living with Cystic Fibrosis today, with the majority of them being over the age of eighteen. CF has over eighteen-thousand mutations, but most of the tests can’t always pick up on them, only the more common mutations of CF. By the age of two, over seventy-five percent of kids containing CF are diagnosed, making over one-thousand new cases of Cystic Fibrosis diagnosed every year. Cystic Fibrosis is caused when both the parents of the child have the CF genes which is why it is a recessive genetic disorder. Thus making it something that isn’t
Puberty is a time frame in which a person will progress from childhood into adulthood, it is commonly a time of rebellion for most individuals and widely fluctuating emotions whilst instinctual drives are heightened, particularly the aggressive and sexual drives. It is a phase where physical changes also occur in the body, processing a child, into an adult (Masterson, 1989). From childhood into adolescence, people who suffer with CF experience mal-absorption and digestive difficulties, therefore there is a hindrance of normal growth and physical development (Wolfe, 2006). Cystic fibrosis is commonly moderate to severe during childhood but as the child grows into an adolescent it is far more
Cystic fibrosis is a disorder affecting approximately 30,000 U.S. citizens. Although this genetic disorder can affect anyone, whites tend to be at a greater risk of developing this disease. Also males and females seem to have an equal risk of developing cystic fibrosis (Gardner, 2007). Cystic fibrosis is passed onto offspring by a recessive mode of inheritance. After extensive analysis it is believed that there is a single cystic fibrosis locus located on human chromosome seven. Considering a multitude of data and factors such as tissue specificity and the predicted properties of the Cystic Fibrosis Transmembrane Conductance Regulator(CFTR) protein, it is theorized that CFTR is the direct cause of cystic
Cystic fibrosis is a autosomal recessive inherited disease that affects many organ systems. Over time the outcome for patients with the disease has improved drastically. The life expectancy for patients has increased to 37 years old, compared to 31 years old (O’ Sullivan, 2009). Researchers have reviewed the etiology, pathogenesis and clinical manifestations for cystic fibrosis.
Research on CFRD is critical in the care of the CF patient because it cannot be treated like typical diabetes. The pathophysiology, diagnosis,
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
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