Symptoms, Prognosis, & Treatment Options

Cystic fibrosis has symptoms that are related to effects of the disease.  One of the symptoms is salty-tasting skin, consistent with increased salt concentrations within the body.  Other symptoms include chronic coughing with phlegm and lung infections.  This is because of the mucus buildup within the lungs.  Mucus buildup will also cause wheezing, difficult breathing, and greasy stools.  People suffering from CF will also have slow weight gain, since enzymes in the pancreas are affected by this mucus buildup.


The outlook for those suffering from CF has changed drastically over the past 100 years.  Over a century ago, many people with CF did not live past childhood.  Today, more than 45 percent of those with CF are 18 years or older.  This is because treatment options are improving with advanced technology and awareness.  There is now a positive outlook for cystic fibrosis patients.

There are various treatment options for Cystic Fibrosis.  Usually, treatment must occur each day since this disease affects many different parts of the body.  One treatment that is done is called airway clearance.  This helps to get rid of the mucus buildup in the lungs.  A vest that vibrates the chest is used to help break up the thick mucus.  Another form of treatment is inhaler medications.  This can also help break up mucus and prevent lung infections.  Lastly, pancreatic enzyme supplements can be taken. This helps replace the non-functional enzymes in the pancreas to help absorb those nutrients needed by the body.  To also increase nutrient intake, many people who have CF will take multi-vitamins.

Resources:
http://www.cff.org/treatments/
http://www.cff.org/AboutCF/Faqs/

http://marcellarn.tumblr.com/post/22329105599/note-those-with-cystic-fibrosis-have-skin-that

Cystic fibrosis (CF) is caused by a defective gene and its protein product.  The gene is called CFTR, and it is on chromosome 7. CFTR stands for cystic fibrosis transmembrane regulator.   Normally, this gene makes a protein that is responsible for controlling water and salt movement in and out of cells. This protein sits on the membrane to regulate control.  It lets ions, such as chloride, through the cellular membrane by acting as a channel. 






The gene becomes defective when a mutation occurs. The mutation happens when three out of the 6100 letters are missing. This mutation is called delta-F508, since three letters are missing, the correct amino acid cannot be placed at the 508 position. Phenylalanine should be placed at the 508 position, but it will not occur, resulting in the gene being defective.  This can result in an abnormal CFTR protein or not one at all.  If a CFTR protein is made, usually the cell will destroy it because it recognizes it as abnormal. 






An abnormal CFTR or missing CFTR results in saltier sweat because chloride ions are not regulated. The chloride ions cannot pass through because the CFTR protein will not open.  If there is no protein, chloride ions will not be controlled.  This occurs mostly in sweat glands, altering concentration of ions, which affects other systems in the body.











http://www.linkstudio.info/portfolio/illustration05.htm (picture)


http://www.ygyh.org/cf/cause.htm- this website gives a great animation to explain how CF occurs!


















Sources:
http://www.ygyh.org/cf/cause.htm


http://www.cff.org/AboutCF/


http://www.childlifesociety.org/what_causes_cf.php

Introduction to Cystic Fibrosis

Hi all!  Welcome to my blog on cystic fibrosis!  Throughout this semester, I will be updating this blog with information about cystic fibrosis.  This information will include what it is, the pathophysiology behind it, the symptoms, the treatments, and other facts about cystic fibrosis. 

Cystic fibrosis (CF) is a genetic disease of the secretory glands.  This disease mainly affects the lungs and the digestive system.  People who have CF produce an unusual sticky and thick mucus.  This is due to a defective gene in their DNA.  Since the gene is defective, the protein is as well, leading to the production of the mucus.  The mucus can build up in a person's lungs and potentially block airways.  The mucus can also block ducts in the pancreas, resulting in digestive enzymes not being able to travel to the small intestine.  Without digestive enzymes, food cannot be broken down to absorb the nutrients and vitamins the person needs.  There is an estimated 70,000 people worldwide who have cystic fibrosis.

I chose this topic because I am somewhat familiar with fibrosis diseases.  When I was in the 6th grade, my grandmother was diagnosed with pulmonary fibrosis, which is a disease of the lungs.  Although cystic fibrosis is a genetic disease and pulmonary fibrosis is not, they still have many aspects that are related.  I chose CF to learn more about lung diseases and to hopefully relate it to the disease that my grandmother passed away from. 

Resources: 
http://www.nhlbi.nih.gov/health/health-topics/topics/cf/
http://www.cff.org/aboutcf/

http://bionews-tx.com/cystic-fibrosis/