Essay on CYSTIC FIBROSIS BASICS

Submitted By omenemo
Words: 556
Pages: 3
Open Document
CYSTIC FIBROSIS

Word Bank:

CFTR: gene that produces an integral membrane glycoprotein that acts as a CFTR channel that transports s chloride, bicarbonate and glutathione.
Mucus: a slimy substance, typically not miscible with water, secreted by mucous membranes and glands for lubrication, protection.

What is Cystic Fibrosis?

A genetic disease resulting in abnormal secretions of the exocrine glands that influence a variety of clinical effects: chronic lung disease and pancreatic insufficiency most commonly.

What causes it?
When both parents carry one copy of the mutant gene (heterozygotes), they can pass on the recessive homozygous mutant gene
The heritable gene mutation is located on chromosome 7
Mutation of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein: when a codon (3 nucleotide bases) called delta-F508 is deleted
Deletion causes the protein coding sequence to shift up
CFTR protein misfolds and cannot bind to membrane
Due to the absence of the CFTR protein, chloride ions are not exported and they build up inside the cell
Water is attracted to the negative charge of chloride so it moves down its concentration gradient and diffuses into the cell.
The cell then becomes hyperosmotic (higher osmolality inside cell than outside) causing it to burst.
Mucus then becomes viscous due to lack of water

History:
Guido Fanconi first recognized the disease in 1936 in his paper.
Dorothy Andersen wrote a journal based on her studies describing the clinical features and pathology of CF (1938).

What it causes:

Thickened mucus clogs ducts and airways, increases infections.
Oxygen transport decreases due to mucous blocking and collapsing airways, and due to infection causing alveoli inflammation.
Mucus clogging ducts of the pancreas or liver prevents secretion of enzymes and results in hepatic and pancreatic insufficiency.
Pancreatic Damage can cause type 1 diabetes because of reduced insulin production.
More infections.
Faltering of normal growth and weight loss due to malnutrition.
Meconium ileus (distal intestinal obstruction syndrome): abnormal solid contents of the small bowel.
Male infertility: CBAVD (Congenital bilateral absence of the vas deferens): genital form of CF (when sperm cannot travel throughthe tubes in the testes-unproperly developed-to become part of semen).

Treatment:
Antibiotics (orally, intravenously, inhalation).
Percussive therapy (airway clearance vest).
Pancreatic enzymes (replacement therapy)
Immunosuppressive therapy (for life):
Show More

Related Documents: Essay on CYSTIC FIBROSIS BASICS

Cystic Fibrosis Research Paper

Cystic Fibrosis: The Lungs’ Worst Enemy Ayde Blanco, Noelia Ezquivel, Hannah Jiao, Elaine Proa Texas A&M International University Abstract Cystic Fibrosis, a recessively genetic received disease, is a dangerous lung defect that occurs in almost 200,000 people each year. It is only inherited and works by damaging the lungs and the digestive system. It hazardously affects cells that create mucus, sweat, and digestive juices inside of your body. While these fluids are meant to act as a…

Words 1551 - Pages 7

Cystic Fibrosis Research Paper

Cystic Fibrosis Gary Mayberry Medical Terminology Prof. Gardner Perspective: Cystic Fibrous is an autosomal recessive genetic disorder that effects the body's human body's lungs, pancreas, liver, and intestines also known as mucoviscidosis mostly found in those with european ancestry. Cystic Fibrous targets the respiratory system and effects an person's lungs aggressively leaving them with short breath and difficulty breathing. Though this diesese affects the respiratory…

Words 1196 - Pages 5

Pseudomonas Aeruginosa Research Paper

Pseudomonas Aeruginosa is a gram negative rod-shaped bacterium that can cause disease in both plants and animals. It is resistant to antibiotics. Is considered an opportunistic bacteria causing cystic fibrosis. Pseudomonas Aeruginosa has a flagella and are motile. P. aeruginosa is not a fermenter of carbohydrates and has an optimal growth in aerobic atmosphere even through it will still grow slowly in an anaerobic environment if nitrate is present as the hydrogen acceptor. Pseudomonas Aeruginosa…

Words 1675 - Pages 7

Cystic Fibrosis Summary

A Peer-Reviewed Article on Cystic Fibrosis The article I chose is titled, Special Needs Populations: Care of the Patient with Cystic Fibrosis written by Katie Neufeld and Lauren Keith. This peer-reviewed article was published in November 2012 in AORN Journal, which stands for the Association of periOperative Registered Nurses. This reading pertains to the genetic disorder of cystic fibrosis (CF). Cystic fibrosis is the type of disease that manifests a patient’s entire life and affects every body…

Words 906 - Pages 4

Protein and Wayne M. Essay

Ian Lescouflair Chemistry December 1, 2011 Cystic Fibrosis and the Prospect for Gene Therapy Every single second, someone somewhere in the world dies. Diseases, viruses, and bacteria are taking over our universe. The only question left to ask now is, what can we do about this? Where would the world be if doctors could insert a functional gene into an individual’s cell and their defective DNA no longer exists? “The road to successful human gene therapy has been long, hard, and scattered with false…

Words 1703 - Pages 7

Cystic Fibrosis Research Paper

History of Cystic Fibrosis While people have unquestionably kicked the bucket of CF for a great many years, the first clear references to the illness stretch out back just a couple of hundreds of years. European legends from the Middle Ages cautioned "trouble is the tyke who tastes salty from a kiss on the forehead, for he is reviled, and soon amazing". References have been found in therapeutic writings as right on time as 1595 that connected salty skin and harm to the pancreas with death in youth…

Words 422 - Pages 2

Essay about Vertex Pharmaceuticals FINAL Nov 26

Second HIV protease inhibitor co-developed by GlaxoSmithKline was approved by the FDA. June 2006: Vertex signed a collaboration with Johnson and Johnson on Hepatitis C. 2007: Vertex conducted clinical development of oral medicines targeting cystic fibrosis. Nov 2010: Vertex completed its first New Drug Application to the FDA (IncivekTM). May 2011: IncivekTM, Vertex’s first medicine was approved by the FDA. Jan 2012: Vertex received FDA approval for its second medicine, KalydecoTM. Oct 2013: R&D…

Words 4515 - Pages 19

Health And Social Care P2

more disease or illness that could be inherited from the parents such as; cystic fibrosis, celiac, asthma, brittle bones disease and a lot more. These diseases are passed to the child through their genes. Cystic fibrosis is a condition that mainly affects the lungs and pancreas, which can also affect other parts of the body, including the liver, nose and sinuses, reproductive organs and sweat gland. The people with cystic fibrosis, the cells do not function correctly and make mucus and secretions which…

Words 853 - Pages 4

Essay Orem's Theory

Predictors of Self-Care in Adolescents With Cystic Fibrosis: A Test of Orem's Theories of Self-Care and Self-Care Deficit Lois K. Baker, PhD, RN, CPNP Mary J. Denyes, PhD, RN, FAAN Pediatric nurses often struggle to find ways to encourage adolescents with cystic fibrosis (CF) to engage in self-care that is essential to their health and life. A study of predictors of self-care was conducted to provide a stronger evidence base for nursing practice with these youth. Orem's theories of self-care…

Words 7700 - Pages 31

Quality Pre-Apprenticeship Framework Essay

calendar quarter. (III) A recipient of a secondary school diploma or its recognized equivalent who is a low-income individual and is— (a) basic skills deficient; or (b) an English language learner. (IV) An individual who is subject to the juvenile or the adult justice system. For more information, see Supporting the Educational and Career Success of Out-of-School Youth under WIOA https://youth.workforcegps.org/resources/2017/01/18/13/28/EKFA-OSY 25. Outputs measure production resulting from contract…

Words 523 - Pages 3