A Study On Cystic Fibrosis

Cystic Fibrosis (CF) is an autosomal recessive genetic disease that causes thickened mucus to form in the lungs, pancreas, and other organs. It affects a specific protein called Cystic Fibrosis Transmembrane Regulator (CFTR) that controls the normal movement of sodium, chloride, and water in and out of the cells within the body. Those diagnosed with CF have either too little or abnormal CFTR. When CFTR is absent or defective, the mucus usually secreted by the cells in the pulmonary airways, pancreatic ducts, and gastrointestinal tract become thickened, leading to obstructions, frequent infection, and loss of function in the affected organs (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). According to the Cystic Fibrosis Foundation

Cystic Fibrosis, also known as CF, is one of the most common life-threatening genetic disorders found in people. Discovered in 1938 by Dr. Dorothy Hansine Andersen, Cystic Fibrosis severely affects two parts of the human body, including the respiratory system and the digestive system. Cystic Fibrosis causes the mucus glands to secrete very thick and sticky mucus. This mucus then clogs the tiny air passages and traps bacteria in the lungs. The thick mucus also stops the release of digestive enzymes in the pancreas from reaching the small intestine. According to Cystic Fibrosis Queensland (2015) more than one million Australians carry the Cystic Fibrosis Gene, with one in every 25 people, often not realising they are carrying the deadly gene.

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 an inherited genetic disorder. This disorder is present when a child has 2 abnormal copies of the CFTR gene. There is a defect or a mutation in this gene that changes the protein which regulates the movement of salt in and out of cells. A mutation or defect is an alteration. This means that there is a change in the CFTR gene which causes it to perform improperly.

Cystic fibrosis is caused by defects in the cystic fibrosis transmembrane conductor regulator (CFTR) gene, which codes for the CFTR protein (Sartin, 2013). The CFTR protein is a chloride channel present in secretory glands and the epithelial cells of numerous organs. Due to the high affinity of chloride, sodium and water, CFTR protein plays a vital role in the homeostatic

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.

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

Cystic fibrosis also known as CF is a rare life threatening genetic disorder. CF causes individuals with this disorder to have persistent lung infections, in turn limiting their breathing. Individuals with cystic fibrosis, have a mutated gene that causes a thick, build-up of mucus in the lungs. Generally, it affects many of the body’s organ systems and is only found in about 200,000 people per year in the United States. Cystic fibrosis is the most widely recognized, life-shortening hereditary sickness in Caucasians. It influences the vehicle of salt and water crosswise over cells and influences distinctive organs, yet lung infection is in charge of the dominant part of manifestations, weight of care, and lost years of life. The quality that causes the sickness has now been recognized and sequenced. (Junge et al., 2016)

Cystic fibrosis is a common hereditary, a long term disease that could affect several parts of the body. It is an inherited disease triggered through “changes in a gene on chromosome 7, one of the 23 pairs of chromosomes that children inherit from their parents” (kidshealth.org). CF happens because of alterations in the gene that makes a protein called CFTR also known as cystic fibrosis transmembrane regulator. There’s at least about 2,000 different mutations in the CFTR gene, all with different phenotypes. One study actually suggested that most of these mutations have no compulsive effect at

Cystic fibrosis transmembrane conductance regulator (CFTR) is the healthy version of the CF gene; CFTR serves an important function in creating sweat, mucus, and digestive juices. The altered CF gene changes CTFR. When CTFR doesn’t make the channel, it causes abnormal ion transport. The CF gene makes sweat too salty and changes the consistency with the mucus in the airways and other organs. Normally mucus is thin and slippery .It usually removes dust and germs in the airway but with thick mucus clogs tubes and other organs. Scientist still do not

Cystic fibrosis is “an inherited, progressive multi-system disease that begins in early childhood,” with the areas most severely compromised being the lungs and digestive tract (Australian Institute of Health and Welfare, 2010, p. 60). Patients suffer from gradual airflow blockage and regular respiratory illness due to an inability to remove secretions from their airways (Australian Institute of Health and Welfare, 2010, p. 60). The condition results from a mutation in the cystic fibrosis transmembrane conductance regulator gene, and is associated with large secretions of viscous mucus from the mucous glands (Giddings, 2009), causing blockages in the pancreatic and hepatic ducts (VanPutte, Regan, Russo, Seeley, Stephens & Tate, 2014). This subsequently causes blockages in both the lungs and pancreas, which often leads to highly critical digestive issues. (Giddings, 2009). Other symptoms include high amounts of salt present in the patient’s

Cystic Fibrosis is a medical condition in which a thick and sticky mucus progressively covers organs, causing them to malfunction. This disease is commonly known for affecting the lungs and bronchi, however there are many more risks the disease brings to organs. Not only does Cystic Fibrosis bring risk to organs, it runs risks to all people. Everyone carries two CFTS genes, however the genetic disease only occurs hereditarily in offspring of two carriers holding damaged CFTS genes. Cystic fibrosis brings a fragile lifestyle to its carriers, and to the tissue and organs of carries. Scientists are trying to find good in the commonly known as “Bad” gene. However, it takes genetic break down to understand the good and bad points of Cystic fibrosis.

Cystic fibrosis is described as a “congenital disorder affecting exocrine gland function, with respiratory effects, including excessive secretions, obstruction of the bronchial system, infection, and tissue damage” (Kowalczyk, 2014). Cystic fibrosis is also known as CF, and is the most common lethal disease in white children (Kowalczyk, 2014).

The respiratory system provides vital oxygen and removes toxic carbon dioxide through the act of breathing and disorders of the respiratory tract can become emergent very quickly (Story, 2015) due to the body’s critical need for oxygen. Cystic fibrosis (CF) is one such genetically common and fatal diseases in the United States per Harness-Brumley, Elliott, Rosenbluth, Raghavan and Jain (2014). CF is a multisystem disorder that is characterized by nutritional deficiency and recurrent respiratory infections due to thick mucus, as a result of the lack of chloride transport across the epithelium. Story (2015) also informs that CF changes the cells that produce mucus, sweat, saliva and digestive secretions and as a result, normally thin secretions become think and tenacious, which in turn occlude airways, ducts, and passageways (Story, 2015).

Cystic Fibrosis is caused by a genetic defect in Chromosome 7. Chromosome 7 encodes the cystic fibrosis transmembrane conductance regulator, also known as CFTR. There are over 1,000 mutations of this gene causing cystic fibrosis, with each mutation manifesting as a different variation of disease onset and clinical presentation. The most common mutation is the loss of phenylalanine residue at deltaF508. The abnormal functioning CFTR causes impaired chloride transport and more viscous secretions. The defect causes dehydrated secretions in the respiratory tract and gastrointestinal tract. Being dehydrated, these secretions become more difficult to move throughout the body. Along with impaired