Cystic Fibrosis : A Inherited Disease That Impacts The Exocrine Glands

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 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.

A defect in the CFTR gene, or cystic fibrosis transmembrane regulator gene, is what causes Cystic Fibrosis. Every person inherits two of these genes, one coming from each parent. If a child inherits a faulty CFTR gene from both parents they will have CF. If a child inherits only one faulty CFTR gene, they are considered “CF carriers” ("What Causes Cystic Fibrosis?," 2013). More than 10 million Americans are carriers of the defective CF gene ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). Carriers are able to live a normal, healthy life and they usually have no symptoms of CF, however, they could pass the faulty CFTR gene down to their children ("What Causes Cystic Fibrosis?," 2013). Carrier testing is available to help people identify if they could pass down the gene. The test uses blood samples or scraped cells from inside the cheek to look at a person’s genetic material ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). The figure below shows how the CFTR gene can be inherited (Kotrla, 2014).

Five year old Ellis Miles undergoes numerous treatments each day to counteract the symptoms that accompany cystic fibrosis including physiotherapy, pills containing digestive enzymes, and a treatment which breaks up the mucus in her lungs. Cystic Fibrosis has numerous life threatening symptoms and while there is no cure, there are several treatments that a typical patient undergoes each day to combat these symptoms. The most prominent symptom associated with Cystic Fibrosis is a thick mucus that clogs up tubes that carry out crucial roles in the human body. This mucus especially affects the respiratory tract. Mucus builds up in the respiratory tract making it difficult for individuals with cystic fibrosis to have a frequent cough that produces a thick

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 is a hereditary disease of the secretory glands that produce mucus and sweat. This is caused by mutations on chromosome 7 and can affects the lungs, pancreas, liver, intestines, sinus and sex organs of the patients.

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

Identification of the mutated gene in Cystic fibrosis can be achieved using molecular biology techniques. For many years ‘sweat chloride analysis test’ was the only definitive test available for the cystic fibrosis which detects and quantifies the abnormal high salt concentration in the sweat of the patients. Then in 1989 positional cloning was used to discover the previously unknown Cystic Fibrosis Transmembrane Regulator (CFTR) gene as the site of mutation in cystic fibrosis. Since then to date more than 2000 mutations have been described in this gene, five common mutations that occurs are F508del, G551D, R117H, 621 +1 G>T and G542X.

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,

The mechanism of cystic fibrosis; simply put is the physical blockage of chloride ions as a result of a defective gene located in the long arm of chromosome 7 at region q31-q32 [figure 2.]. This gene is responsible the exocrine gland function involving multiple organ systems, primarily the respiratory system, gastrointestinal (GI) tract and reproductive system. With the faulty CFTR gene, the epithelial cells in the body cannot channel chloride ions across the membrane [figure 3.] and affecting the cells ability to properly regulate sodium and water, as they are closely related. The water is needed to produce a healthy, thin layer of mucus that protects against infection and keeps the membrane moist. This mucus builds up in the lungs, pancreas and liver mostly, creating harsh breathing conditions for the patient and a lack of digestive enzymes and bile for breaking down nutrients and in some cases lower than normal insulin

Abstract: The main goal of this paper is to explain what Cystic Fibrosis is and also to explain what

Cystic Fibrosis (CF or CFTR) is a life threatening disease that causes the buildup of thick and sticky mucus in many organs and body systems, and the mutated genes are passed down from parent to child. It affects about 30,000 people in the US, about 5% of the U.S Population carries the disease, but they do not have it. CF is most commonly present in Caucasians and some Hispanic. CF is less common in African Americans and Asians. Although cystic fibrosis is rare in most race, if it is inherited, it can life threatening when it isn’t treated in the early stages.

Cystic fibrosis is due to a mutation in the gene that encodes cystic fibrosis transmembrane conductance regulator (CFTR) protein. It effects the exocrine glands which are responsible for making mucus and sweat. It causes a thickening of the mucus in your body and increases the salt content of your sweat. These can lead to problems including problems absorbing oxygen, lung infections, inhibit digestive enzymes from reaching your small intestine, dehydration, increased heart rate, lower blood pressure, and infertility. It can also have an effect on reproduction, causing difficulty for women to conceive and infertility in men. People who suffer with cystic fibrosis are also at a higher risk of getting diabetes, liver disease, osteopenia and

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 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