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. The main cause of the cystic fibrosis is that a defect gene damage a protein called cystic fibrosis transmembrane conductance regulator
Abstract: The main goal of this paper is to explain what Cystic Fibrosis is and also to explain what
Cystic fibrosis is a genetic disease that is programmed in the victim’s DNA. It is passed on from parents who are both carriers of the defective gene. This genetic disorder affects the respiratory and digestive systems. People who suffer from cystic fibrosis usually inherit a defective gene on chromosome 7 called CFTR (cystic fibrosis transmembrane conductance regulator). Below is a diagram showing how cystic fibrosis is passed on from carrier parents to a child. The diagram shows that when a child is born by two parents who are both carriers of the CFTR defective gene, there is a one in four chance of being born with cystic fibrosis, there is a 2 in 4 chance of being a carrier or a 1 in
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.
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 is an inherited life- threatening disorder that damages the lungs and digestive system. This disorder can also be known as Mucoviscidosis . Long- term issues include difficulty breathing, also coughing up sputum as a result from frequent lung infections. Sinus infections, poor growth, clubbing of the finger and toes, also infertility in men are other possible symptoms of this disorder. Different individuals may have different degrees of symptoms. Cystic fibrosis is an autosomal recessive disorder. Mutations in both copies of the gene for the protein cystic fibrosis transmembrane conductance regulatory (CFTR) is the cause of this. CFTR is involved in production of sweat, digestive fluids, and mucus. Secretions,
Cystic fibrosis is an Autosomal Recessive Disorder. The mutation of the Cystic Fibrosis Transmembrane Regulator is what causes Cystic Fibrosis. Normally, in the cells, CFTR protein is a channel that allows cells to release chloride and other ions. In the case of an individual with Cystic Fibrosis, the protein is defective therefore cells do not release the chloride. For that reason, there is a thick, sticky mucus with individual with cystic fibrosis.
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
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
To begin, cystic fibrosis is a genetic disease that causes persistent lung infections and limits the ability to breathe over time. It is an inherited disorder both parents have to be a carrier of the gene. Some people say if a both parents have the gene then their is a 50% chance that the mother will have a baby with the disorder. It affect the
Cystic fibrosis (CF) is one of the most common fatal genetic diseases in Canada. This disease is the result of a mutation of the cystic fibrosis transmembrane conductance regulator (CFTR), located on chromosome seven. CF causes the body to produce thick and sticky mucus that clogs the lungs, causes infections, and blocks the release of enzymes from the pancreas. The first such defective gene was identified by research geneticist Dr. Lap-chee Tusi in 1989 with his team at the Hospital for Sick Children in Toronto. The mutated copy of the gene is recessive, so a child must inherit both copies of the defective allele from his or her parents in order to express CF. In the past, parents realized that they were carriers only when their child was
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 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) is a hereditary recessive genetic disorder of the secretory glands responsible for producing mucous and sweat. It is characterized by the disruption of epithelial cell function to produce a defective form of the protein cystic fibrosis transmembrane conductance regulator. When defective, epithelial cells cannot regulate the movement of chloride across the cell membrane, disrupting the essential balance of salt and water required to maintain a thin coating of fluid mucous(). Instead of acting as a lubricant, mucous becomes thick and sticky causing secretions to block tubes, ducts and passageways in the lungs and digestive system. Obstructions in the pancreas hinder the ability to digest and absorb fats and some nutrients
Cystic fibrosis is a chronic disease that greatly impairs the endocrine, respiratory, digestive, and reproductive systems. Offspring inherit this autosomal recessive disease when both of the biological parents are carriers for the defective CTRS (cystic fibrosis transmembrane conductance) gene, located on the 7th chromosome (University of Utah Health Sciences). This incurable disease causes the secretory glands to produce viscous sweat and mucus, harming the individual’s major organs (lungs, pancreas, liver, intestines, sinuses, and sex organs) and causing them to malfunction. For example, the production of thick and sticky mucus clogs the lungs and leads to growth in bacteria, often causing lung infections and breathing difficulties. However,
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