A Brief Note On Cystic Fibrosis And The Common Autosomal Recessive Disorder

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

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 a life threatening condition that causes severe damage to the lungs and digestive system. Developing this condition can change a person's entire life. Depending on the severity of the condition a person can be affected by mild symptoms such as shortness of breath, all the way to severe symptoms such as rectal prolapse, or even death. Screening is done on infants in all 50 states; therefore if a child has inherited Cystic Fibrosis it will be known in the first months of life. As professional staff members of a nursing community it will be necessary to help prepare the child and the family for the life of Cystic Fibrosis.

Every day, people die from Cystic Fibrosis. That is why Cystic Fibrosis is known as the most deadly inherited disease. There is no real cure of CF but, right now there are many ways to ease your symptoms and help you manage the condition. “Every day, people with CF complete a combination of the following therapies Airway clearance, Inhaled medicines, Pancreatic enzyme supplement and sometime oxygen therapy depending on how severe your condition is”(McLoud). Since there is so many new advancements in treatment, people who have CF now live twice as long as they did 30 years ago.

What is Cystic Fibrosis? How does it affect people living with it? Cystic Fibrosis, also known as CF, is a life-threatening hereditary disease. It is inherited by a faulty cystic fibrosis transmembrane conductor (CFTR) gene from each parent (Kowalczyk, 2014, p. 74). This faulty gene makes a defective protein that does not work well and causes the body to produce sticky, thick mucus and very salty sweat("About CF: Causes, Signs & Symptoms of Cystic Fibrosis,"

​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 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.

Cystic Fibrosis affects 1 in every 2,500 children at birth. (ncbi.nlm.nih.gov) Cystic Fibrosis, or CF, is a genetic disorder. A genetic disorder is inherited, and is contributed to by both parents. (lung.org) Each parent has one abnormal gene. (lung.org) Cystic Fibrosis is where the body can not make, or it makes an abnormal version of the CFTR protein. CFTR is also known as cystic fibrosis transmembrane regulator. There are several symptoms, and causes of Cystic Fibrosis. These symptoms are diagnosed, according to what causes CF. Cystic Fibrosis is an inherited disease, that when after diagnosed, doctors will suggest treatments to help with the condition. Cystic Fibrosis is most common in white infants, but can

Cystic fibrosis (CF) is a progressive condition in which epithelial exocrine glands are obstructed (Howe, 2001). Whilst many organs and bodily systems are disrupted by CF, the lungs and gastrointestinal organs are predominantly affected; it is also most common amongst the Caucasian population due to the autosomal recessive gene (Quitter et al., 2003 cited in Wolfe & Mash, 2006, pg 514). The faulty gene effects the production of cystic fibrosis transmembrane conductance regulator protein, which is responsible for the formation of molecular tunnels which monitor the movement of salts and water from the cells (Hopkin, 2010 pg 4).

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 a genetic disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator protein, which results in a defective chloride channels. Chloride is part of salt that helps transportation of water needed for thin, free flowing mucus. The main characterization of cystic fibrosis is thick, sticky mucus in the lungs, making breathing difficult and allowing pathogens to invade (Ratjen and Döring 2003). Airway mucus creates an iron limiting environment to prevent bacterial growth. However, Pseudomonas aeruginosa is a bacteria able to resist this airway mucus. This proposes a question as to why people with cystic fibrosis are prone to infection when exposed to the same pathogen as any healthy individuals. Research has suggested defective mucus clearance and biofilm formation could contribute to prolonged Pseudomonas aeruginosa infection in people with cystic fibrosis (Gi et al. 2015). Also, targeting cystic fibrosis transmembrane conductance regulator proteins to allow chloride transportation has been proven to decrease mucus volume and Pseudomonas aeruginosa infected tissue (Rowe et al. 2014). The above information suggests increased mucus volume causes prolonged infection in the lungs of cystic fibrosis patients. This paper will describe cystic fibrosis and will focus on the unanswered question as to why cystic fibrosis patients experience chronic infection in their lungs.

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 or CF is a life threatening genetic disorder that mainly affects the lungs and digestive system. Cystic Fibrosis is most common among the Caucasian population, particularly people of northwestern European descent and is less common in people of African ancestry and is very rare in people of Asian ancestry. According to the Cystic Fibrosis Foundation, “an estimated 30,000 children and adults in the United States (70,000 worldwide) have CF” (Cystic Fibrosis Foundation, 2014).

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.

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