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 (CF) is a genetic disorder in which mucus glands produce abnormally thick secretions. These secretions can lead to chronic infections of the lungs and eventually lead to obstruction of the pancreas, resulting in digestive enzyme deficiency, the liver is also sometimes affected. Secretions from the sweat and salivary glands of a CF patient frequently contain abnormally high amounts of sodium and chloride. Because the body produces a high amount of salt, a sweat test is generally used to diagnose the disorder.
A blood sample through a heel prick test is immediately taken after birth. If this test proves to be positive, a sweat test will be done to measure the amount of salt in the sweat. Most babies who have CF are now diagnosed within the first two months of
Cystic fibrosis is a genetic life-threatening disease. Other names for cystic fibrosis may be CF for short, cystic fibrosis of the pancreas, fibrocystic disease of the pancreas, mucoviscidosis, mucoviscidosis of the pancreas, pancreas fibrocystic disease or pancreatic cystic fibrosis. Cystic fibrosis was first discovered in 1938 by Doctor Dorothy Hansine Anderson. Doctor Anderson was the first to view cystic fibrosis as a disease and helped create tests to diagnose it. Cystic fibrosis is a disease that is passed from parents to children through genes. It is a long-lasting illness of the secretory glands. The secretory glands are what makes mucus, sweat, tears and saliva. Cystic fibrosis causes the secretory glands to generate unusual thick
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.
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.
According to the CFF Homepage several clinical manifestations include; salty-tasting skin, persistent coughing, often times with phlegm, common lung infections, wheezing, shortness of breath, poor growth or weight gain in spite of a good appetite, regularly greasy, bulky stools or constipation, and male infertility. Salty-tasting skin occurs because the epithelial cells on the sweat glands are affected, large amount of salt is released when the patients sweats, leaving a salty frosting on the skin. A persistent cough is expected because the lungs are trying to remove the phlegm and clear the airway. Lung infections are frequent because the “buildup of mucus makes it easier for bacteria to grow and cause infections” (What Are the Signs and Symptoms of Cystic Fibrosis? (n.d.)). Wheezing and shortness of breath are also caused because of the buildup of mucus in the lungs. Patients with cystic fibrosis have poor growth or weight gain in spite of a good appetite, as the mucus that lines the intestines enables the patient from getting enough nutrients because the pancreas cannot release the necessary enzymes to help absorb fats and proteins. Since the intestines cannot fully absorb fats and proteins, this causes regular greasy, bulky stools or constipation. “In 97–98% of men with CF, a bilateral congenital absence of the vas deferens (CBAVD) blocks the transport of spermatozoa from
Cystic Fibrosis is an inherited disease caused by mutations in a gene on 7th pair of chromosomes. Cystic Fibrosis is a chromosomal abnormality, meaning that one of the 23 pairs of chromosomes are not what they are supposed to be. A person without Cystic Fibrosis has a gene in chromosome 7, which produces a normal and substantial amount of protein called Cystic Fibrosis transmembrane regulator (CFTR), which in turn produces thin and watery mucus. A person with Cystic Fibrosis has a gene in chromosome 7, which produces either abnormal CFTR protein or no CFTR protein at all, which causes the body to produce thick and sticky mucus “A person with CF produces abnormal CFTR protein — or no CFTR protein at all, which causes the body to make thick,
Cystic Fibrosis is the most common genetically inherited disease in Australia with one out of every twenty-five people are carriers of the CF gene or similar gene mutations that end in a CF , symptoms of Cystic Fibrosis depend on the level of severity of the gene. Carriers will develop thick and sticky mucus within the lungs, airways, as a result carriers will experience a persistent and difficult cough, breathlessness, the inability to exercise, constant lung infections, inflamed nasal passage is the reason the life expectancy is 25 years of age. The CF gene also has a significant effect on the digestive symptoms such as foul smelling and greasy excretes with strain to excrete, intestinal blockage, the inability to gain weight and constipation.
The overarching effect of cystic fibrosis is the production of a thick mucus from the epithelial layer of the respiratory, digestive and reproductive systems. In the lungs, a thick layer of mucus accumulates and makes it difficult for individuals with cystic fibrosis to breath. In the pancreas, the ducts are clogged with mucus and digestive enzymes are unable to reach the small intestine. Failure to secrete digestive enzymes leads to malnutrition, failure of growth and late development in children. In the intestines, both small and large, the accumulation of the abnormal mucus can lead to bowl obstructions.
Cystic Fibrosis is a life-threatening disorder of the lungs. This condition is hereditary and affects the cells that produce mucus and digestive juices. Instead of acting as a lubricant, these secretions become thick and slimy due to a defective gene and its protein product. The thick substances block the tubes, ducts, and passageways of the pancreas and lungs. Those suffering from cystic fibrosis have difficulty breathing and frequently develop lung infections. Many also develop diabetes due to natural enzymes being stopped from helping the body break down food and absorb vital nutrients. There are no known cures for cystic fibrosis; however, there are many treatments
CF occurs through the inheritance of a loss-of-function mutation in the gene that encodes for the CF transmembrane conductance regulator (CFTR) membrane protein (2). This protein is a transporter responsible for actively transporting chloride ions and sodium ions, which in turn regulate osmotic balance (2). Mutations in CFTR affect the water-driving force in the epithelial surfaces lining the gastrointestinal tract and pancreas (2). This results in viscous and sticky mucus secretions which build on the epithelial surfaces (2). This environment causes patients with CF to be susceptible to
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.
What is Cystic Fibrosis? Cystic Fibrosis is a progressive genetic disease that causes persistent lung infections that limits you the ability to breath. The first ever case of CF was in 1938 by Dr. Dorothy Anderson a Pathologist. He found the disease to be caused by malnutrition Dr. Dorothy called the disease “Cystic Fibrosis of the Pancreas”. Cases of this disease in the 1950s where difficult because people never lived long enough to make it to elementary school. With the advances of technology over the years people with CF live long enough to make a family and finish their careers. Over the years scientist and doctors still have not found a cure for CF. Lung cancer is one of the most serious side effects of getting CF because of mucus getting clogged up in the lungs.
Maria has Cystic fibrosis, based on her symptoms. Cystic fibrosis is a genetic disorder, it is carried on chromosome number 7. It requires two copies, one from each parent, to show the symptoms of Cystic fibrosis. It produces a defective form of a protein (CFTR). It affects the lungs and the digestive system. The function of the epithelial cells, found in sweat glands in skin and line the lungs, liver, pancreas, digestive, and reproductive system, are disrupted. When the disorder is present, the way chloride passes over the cell membrane cannot regulate. It messes up the salt and water needed to maintain the coating of fluid in the lungs, and other organs. When the salt and water lining becomes too thick, it does not function properly. For
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